Gonorrhea and Chlamydia

We talked about most STIs in a series back at the beginning of 2019! This podcast is an update to the treatment guidelines and will replace our last episode on gonorrhea and chlamydia, as these two bugs had some changes in treatment with the 2021 CDC STI guidelines.

First of all, why are we doing these two STDs together? 

• Because they have a lot of common symptomatology 

• They may come together (ie. if you have one, you may have the other) 

• We usually order the two tests together (say it in one breath anyway in the clinic or the ED) 

What are gonorrhea and chlamydia and why do we care? 

• Both are sexually transmitted infections that anyone can get if they are sexually active (any kind of sex), and there is vertical transmission between mother and child 

• Gonorrhea 

• Caused by bacteria Neisseria gonorrhoeae (gram negative diplococci) 

• 1.6 million new infections annually in the US

• More than 50% occur in patients aged 15-24

• Usually symptomless but in men can cause burning with urination, penile discharge, or even testicular pain 

• In women, 50% are symptomless but can lead to burning with urination, vaginal discharge, intermenstrual bleeding/postcoital spotting, pelvic pain

• Can also affect other areas like throat or anus 

• If untreated, it can lead to pelvic inflammatory disease and infertility. Additionally, at risk for disseminated gonococcal infection 

• Skin pustules/petechiae, septic arthritis, meningitis, endocarditis 

• Very rare (0.6-3% of infected women and 0.4-0.7% of infected men 

• In pregnant patients: septic abortion, chorio, neonatal blindness 

• Chlamydia 

• Caused by bacteria Chlamydia trachomatis (gram negative bacteria that only replicates in host cells).

• 4 million new infections annually in the US

• More than 65% occur in patients aged 15-24

• Some estimates show at any given time, 1 in 20 sexually active women aged 15-24 has active chlamydia infection in the US.

• Again, usually symptomless (70-80%), but can cause vaginal discharge and burning with urination in women 

• In men, can have discharge from penis, burning with urination, pain and swelling in testicles. 

• Rectal, oral/throat infections are also possible.

• If untreated, can also cause PID and infertility in women → around 15% of women will develop.

• Also can cause chlamydia conjunctivitis or trachoma → blindness 

• Reactive arthritis → can’t see, can’t pee, can’t climb a tree = arthritis, conjunctivitis, urethral inflammation 

How do we diagnose them? 

• Usually a urine test, but can also do endocervical swab, vaginal swab, rectal swab, or pharyngeal swab 

• Nucleic acid amplification test = gold standard 

• Who should be tested? 

• CDC recommends screening:

• Of anyone with concern for symptoms;

• Annually for GC/chlamydia for all sexually active women younger than 25 years 

• Opportunistic screening for older women with identified risk factors (ie. new or multiple sexual partners or sex partner who recently had an STI) 

• For men: once a year for GC/chlamydia for all sexually active MSM, and more frequently (q3-6 months) for MSM who have HIV or if they have multiple or anonymous partners 

How do we treat gonorrhea and chlamydia? - note, this is only for adolescents and adults 

• Treating gonorrhea (NOT disseminated) 

• Gonorrhea is becoming more and more resistant to antibiotics, and we are down to one class of antibiotic that really treats it: cephalosporins 

• CDC recommends: ceftriaxone 500mg IM x1

• This is an update to the previous recommendations, which used 250mg. This reflects the changing state of antibiotic resistance of gonorrhea.

• Test of cure is recommended for throat infections and for pregnant patients, but not necessarily for genital or rectal infections.

• If cephalosporin allergic:

• Gentamicin 240mg IM in single dose, AND Azithromycin 2g orally in single dose.

• Treating chlamydia 

• Recommended regimen by the CDC: Doxycycline 100mg PO twice daily for 7 days.

• Alternative regimens include:

• Azithromycin 2g orally, single dose

• Levofloxacin 500 mg orally for 7 days 

• Azithromycin has lower efficacy amongst persons with concomitant rectal infection, which is why the doxycycline regimen is preferred.

• Repeat screening may be needed to ensure efficacy of the single-dose azithro regimen.

• Expedited partner treatment - treat the sexual partner of the patient diagnosed with chlamydia or gonorrhea without first examining the sexual partner 

• CDC says: EPT is a useful option to facilitate partner management in states where it is permissible, and reduces re-infection risk for the patient while treating the partner.

• Should always counsel the patient that partner and patient should refrain from having intercourse for at least 7 days after all partners have been treated.

GC/chlamydia in pregnancy 

• Screen in first trimester and if positive, should be treated

• Exception: for chlamydia, Azithromycin 1g orally x1 is the recommended regimen.

• These medications are safe during pregnancy, and risks outweigh the benefits of not treating

• Expedited partner treatment is recommended where permissible.

• Test of cure is recommended in three weeks (and should also screen in 3rd trimester again)

• Pregnancy-specific risks of non-treatment

• Vertical transmission to newborn 

• Chlamydia: conjunctivitis (5-14 days after birth), and pneumonia (4-12 weeks of age) 

• Gonorrhea: conjunctivitis (more purulent compared to watery discharge of chlamydia… both can lead to blindness!) 

• Gentamicin/erythomycin eye gel helps to prevent these and why we use it!

• Otherwise: septic abortions, intact chorio, etc. 

A final “fun fact” we had dug out in the original GC/CT episode…

• There is no consensus as to why gonorrhea is called the clap… but some theories: 

• Old English word “clappan” means throbbing or beating -- could mean the burning during urination with gonorrhea 

• Proposed treatment during medieval times of “clapping” the penis or slamming the penis between both hands on a hard surface to get rid of the discharge/pus 

Genetic Carrier Screening

Additional Reading
CO 690: Carrier Screening in the Age of Genomic Medicine
CO 691: Carrier Screening for Genetic Conditions
CO 816: Consumer Testing for Disease Risk

Previously on the podcast, we have talked through aneuploidy screening. But we’ve not talked in depth about carrier screening, so today’s podcast is dedicated to the other form of prenatal genetics we often consider! 

What is carrier screening?

• Aneuploidy screening: looking at some biochemical marker in an already pregnant individual to understand risk of trisomy (typically).

• Carrier screening: looking at genetics of parental contributions to assess potential risk in a current or hypothetical pregnancy. 

  • So this tells you - do you carry a condition that you are not affected by?

  • Only needs to be performed once in a lifetime - as opposed to aneuploidy screening, which needs to be re-performed with every pregnancy. 

• ACOG recommends that “information about carrier screening should be provided to every pregnant individual.” 

• Carrier screening most commonly looks for autosomal recessive conditions - that is, both parents need to be carriers in order for there to be a 25% risk of fetus being affected.

  • Certain X-linked conditions (i.e., hemophilia, Fragile X) can also be screened.

    • Information can be used in pregnancy planning, understanding risk of fetal condition that may impact life/lifespan of fetus, and choice for IVF with PGT or invasive testing in pregnancy.

  • Some other conditions may be discouraged from carrier screening (i.e., Huntington’s disease, BRCA genes) because of ethical concerns with doing carrier screening on fetuses, given these are adult-onset conditions. 

  • No “official threshold” for carrier screening generally, but most panels select conditions with a carrier frequency of ~1/100 or greater → generally a disease incidence of 1 in 40,000.

• There always remains some residual risk for carriage state/disease, even after carrier screening.

What strategies have been suggested for carrier screening?

• Historically, carrier screening was considered on an ethnicity basis (i.e., ethnic-based screening)

  • However, multiple limitations to this approach:

    • Challenging for individuals to define ancestry

    • Ancestral “mixing” between partners of different ethnicities causing different risks

    • The “pretest” probability of a positive is difficult to predict given these limitations

    • Couples with consanguinity may be at higher risk of recessive conditions being expressed in offspring, regardless of ethnic background.

• Current approaches favor panethnic or expanded carrier screening 

  • Panel of disorder screening is offered to all individuals regardless of ancestry.

  • The cost of screening has come down significantly, allowing for screening for hundreds of conditions at reasonable cost to patient.

• If family history of mutations/conditions are known, targeted screening can be considered to look for specific mutations.

What limitations are there in carrier screening? What does “residual risk” after carrier screening mean?

• These carrier screening panels look for known mutations in a population, based on a reference genome.

  • These reference genomes are overwhelmingly represented by White populations, so:

    • Carrier screening may not detect all mutant variants of an allele → residual risk

    • Carrier screening does not recognize new, potentially disease-causing variants.

      • Carrier testing is not sequencing! 

What conditions are recommended by ACOG to be screened for with carrier screening?

• Spinal muscular atrophy

  • Autosomal recessive disease with spinal cord motor neuron degeneration due to biparental inheritance of an SMN1 mutation/deletion.

  • Leading genetic cause of infant death.

  • Incidence of disease around 1 in 6-10k; carrier frequency in most populations around 1:40 to 1:60.

    • 2% of cases are the result of a new gene mutation. 

  • SMA has an interesting genetic profile:

    • There is generally one copy of SMN1 per chromosome, and a deletion/abnormality in each parental contribution leads to disease (again, autosomal recessive).

    • However, some of the population have two copies of SMN1 on a chromosome, and 0 copies on the other – so they are technically carriers (because of the chromosome with 0 copies).

    • Carrier screening tests for SMA generally look for the number of copies of SMN1 - so a patient with this particular variation (2+0) would be missed.

      • This 2+0 variation is much more common in African Americans - lowering the carrier detection rate of SMA from 95% in White patients to 71% in African Americans.

      • This leads to a higher residual risk from these tests as they may miss the 2+0 mutation.

• Cystic fibrosis

  • Most common life-threatening AR condition in White population.

    • Incidence 1/2500 in White; considerably less common in other ethnic groups.

  • Two copies of CFTR mutations (chromosome 7) cause the disease.

  • Most carrier screening looks for one of the 23 most common mutations that exist – again, predominantly in White populations.

    • But there are over 1700 CFTR mutations identified that can lead to CF!

    • Performance ranges from 94% sensitivity in Ashkenazi Jewish populations to less than 50% in Asian populations. 

    • Because of the number of mutations, some have advocated for CFTR sequencing to supplant panel testing as a way to determine carrier status and reduce residual risk amongst all populations. 

• Hemoglobinopathies

  • We have talked about these on the show before - thalassemias and sickle cell disease.

  • CBC and RBC indices should be performed in all pregnant persons to assess for anemia and risk of hemoglobinopathy.

    • Hb electrophoresis can be considered in all patients with anemia, particularly if there is family history or ethnicity-based risk factor, to screen for hemoglobinopathy.

    • Alpha thalassemias, though, can only be detected with molecular genetic studies - so if the electrophoresis is not conclusive, DNA-based testing should be pursued to assess for alpha thal. 

• Fragile X Syndrome

  • Most common inherited form of intellectual disability; distinctive facial features in males, enlarged testicles, delay in fine and gross motor skills are some manifestations.

  • 1 in 3600 males; 1 in 4k-6k females. 

  • Carrier frequency in the US around 1 in 250 for no known risk factors, or 1 in 86 for those with a family history of intellectual disability.

  • X-linked disorder of mutation in FMR1 gene.

    • The mutation is characterized by expansion of a trinucleotide repeat sequence (CGG); the more repeats, the more significant the mutation:

      • Intermediate (45-54 repeats)

      • Premutation (55-200 repeats)

      • Full mutation (>200 repeats)

    • Females carrying a premutation or full-mutation X chromosome are also at risk for premature ovarian insufficiency. Females with full mutation may also have fragile X characteristics of disease like in males, though with variable expression. 

We hear a lot about “Ashkenazi Judaism” and carrier screening. What does that mean and what conditions should be screened?

• Ashkenazi Jewish is defined in the committee opinions as individuals of Eastern and Central European Jewish descent.

  • Not a super accurate or helpful designation, as most individuals with Jewish ancestry in the USA are descended from these areas.

• Recommendations for specific screening:

  • Tay Sachs Disease - severe, progressive neurodegenerative disease with functional deficiency in the gene encoding the hexosaminidase A enzyme. 

    • Carrier rate in Ashkenazi Jewish populations around 1 in 30.

  • Cystic fibrosis

  • Canavan disease - severe degenerative neurologic disease

  • Familial dysautonomia - severe disorder of sensory and autonomic nervous systems

  • Multiple others are also considered, including Gaucher disease, Joubert syndrome, maple syrup urine disease, Niemann-Pick disease, and a few others. 

    • The panels developed for this population are very ethnicity-specific - so while great for this population, residual risk discussion can be complicated in non-Jewish individuals (as the incidence of carriage is often very low).

What about the genetic screening tests advertised to patients online?

• There are a whole host of “carrier screens” that are direct-to-consumer, and even some of the more reputable companies in this space have direct-to-consumer options given the decreasing expense of this technology. 

• However, these companies have varying degrees of privacy protections for genetic data.

• They also may have implications on patient’s eligibility for disability and other types of insurance; long-term care considerations; and ownership of one’s own genetic data.

• Some direct-to-consumer testing uses different kinds of technology to develop a picture of risk for a patient, that may or may not be helpful in their context. Abnormal results of concern should always be reviewed with a genetic counselor.

  • If you have any concerns or need more time for your patients to discuss whether they want to have carrier screening, it’s worthwhile to send them to a GC! They can help patients navigate targeted vs expanded carrier screening and help make decisions that are right for each individual patient. 

Microscopic Hematuria

Committee Opinion 703 serves for additional reading today!

Defining Microscopic Hematuria

• 2012 American Urologic Association (AUA) criteria - 3+ RBC/high power field

• The AUA guidelines also noted that if found, recommendation for evaluation for all patients older than age 35 years

  • This evaluation includes cystoscopy and upper urinary tract imaging with CT, with the primary concern being urothelial malignancy

• The data supporting this approach was largely based on male patients - so ACOG and AUGS put together this series of recommendations thinking about the female patient 

  • As an example of how this can be so different: the CO points to a large study where 20% of urinalyses performed had microscopic hematuria, and other studies pointing to incidences between 2% and 31% – that would be a lot of studies!

• These studies do carry risks – radiation and malignancy risk, particularly for young patients.

Differential Diagnosis and Risk Factors

• ACOG points to specimen collection being potentially more challenging in women:

  • Hematuria might result from true hematuria, but also from

    • Menstruation

    • Urogenital tract atrophy

    • Pelvic organ prolapse

    • Other non-threatening urogenital diagnosis (prostatic hypertrophy in men, urethral stricture, etc). – these are much less common in women as well.

  • The primary concern with microscopic hematuria: urothelial malignancy.

    • Risk factors:

      • Male sex

      • Age over 50

      • Previous or current smoker

      • Gross hematuria

      • HIstory of pelvic radiation

    • Male sex specifically has 3.3x more new cases of bladder cancer than female sex

      • 4th most common cancer in men, while not in the top 10 cancers for women

    • Renal cancer is also 1.7x more likely in men.

When is reasonable to consider screening in women?

• Studies looking at women have found:

  • Urologic malignancy rate in women under 40 years with any microscopic hematuria was 0.02%, and older than 40 years was 0.4%

  • Urologic malignancy rate is higher in women with 25 RBCs / hpf or greater

  • Smoking also increases risk.

• Bottom line: women older than 60, with gross hematuria, and history of smoking have highest risk of urologic cancer.

  • Low risk, never smoking women, younger than 50 and fewer than 25 RBC/hpf - risk of urologic malignancy is less than 0.5%. 

• In 2020, the AUA updated their guidelines to incorporate these gender-specific screening pathways, which are helpful to recognize and be  aware of:

  • Low risk women can undergo repeat urinalysis within 6 months, or cystoscopy/renal ultrasound

  • Intermediate risk women should undergo cystoscopy and renal ultrasound

  • High risk should undergo cystoscopy and CT urogram

• Of course, keep your local urogyn / urologist aware of any patient for whom you have concern based on risk factors to discuss evaluation for urothelial cancers.

View fullsize

AUA/SUFU 2020 Microhematuria Algorithm

Menstrual Suppression

Read the new ACOG Clinical Consensus! – General Approaches to Medical Management of Menstrual Suppression

Why menstrual suppression?

• As an OB/GYN that might sound like a silly question – but for our patients, this is a serious concern!

  • A holdover of understanding (even with the design of OCPs) that a “natural cycle” is necessary for health – it’s not. 

• Goal overall is to:

  • Reduce menstrual flow, by amount and total days while

  • Find a strategy based on patients preferences and goals, balancing any risk factors.

Which method is best?

• Combined Hormonal Contraception

  • Can achieve menstrual suppression by skipping the placebo week.

    • Some packs designed for this - 84/7 regimens, 24/4 regimens.

    • This can be done indefinitely!

      • Studies have found these extended cycle and continuous use regimens to be safe and effective

  • Patients should be counseled that over time, breakthrough bleeding is more likely to occur. In a recent RCT comparing OCPs to an LNG-IUD for menstrual suppression, folks in the OCP group had BTB:

    • 50% at pill pack 3;

    • 69% at pill pack 7;

    • 79% at pill pack 13.

  • Bleeding overall tends to decrease with successive cycles.

  • Breakthrough happens less with higher doses of estrogen (i.e., more bleeding on a 20mcg pill than a 30mcg pill).

  • BTB will decrease with each successive cycle – so it’s not unreasonable to consider monthly cycles for 3-6 months, then transition to more extended cycles. 

    • Intermittent estrogen can also be used to help prevent BTB.

  • The patch and vaginal ring can also be used for menstrual suppression, and have advantage of not requiring daily medication.

    • Patch has no difference in frequency of BTB compared to pills.

    • Ring is well tolerated for extended cycles and seems to be effective in reducing/minimizing bleeding.

• Progestin-Only Methods

  • These can be of particular importance to patients where estrogen is contraindicated (cardiovascular disease, migraine with aura, hypertension, hypercoagulability) or undesired (trans-men, patient preference).

• POPs

  • The mini-pill (norethindrone 0.35mg) has to be taken in a tight window, and has low rates of amenorrhea, so is generally not a great choice for menstrual suppression.

  • Norethindrone acetate 5mg can be used for menstrual suppression with better success compared to the minipill, with amenorrhea rates of up to 76% at 2 years of use.

    • However, this formulation is not approved as a contraceptive so can’t be used for this.

  • Drosperinone 4mg is a new progestin only pill on the market; data is limited, but it is likely more promising than the minipill for menstrual suppression and also has contraceptive effect. 

    • That said, likely not a first line choice for this indication specifically.

• DMPA (depot medroxyprogesterone acetate)

  • The DMPA shot is given roughly every 3 months.

  • Amenorrhea rates are good, especially with more prolonged use – 68-71% at 2 years.

    • However, unscheduled bleeding is a common side effect.

    • Loss of bone mineral density and weight gain are other common concerns; the loss of BMD is reversible with discontinuation. 

• LNG-IUD

  • Excellent at amenorrhea - 50% at 1 year, 60% at 5 years; highest with the 52mg varieties.

  • BTB can be managed by offering a trial of NSAIDs, POPs/OCPs, or doxycycline before discontinuing the IUD.

  • Not a good choice for patients where ovulation suppression is also desired (ie, PCOS) – the IUD has unclear/unpredictable effects on ovulation suppression.

• Etonogestrel implant (nexplanon)

  • Can be continued up to 5 years for contraception, FDA approved for 3 years.

  • For menstrual suppression, use past 3 years may not be effective. 

  • 22% achieve amenorrhea, but breakthrough bleeding and spotting are common, especially shortly after insertion.

    • BTB can be managed with OCPs or norethindrone.

• The ACOG document contains a very helpful but large table on the different types of hormonal contraception and their relative success, advantages, and disadvantages with menstrual suppression. Definitely worth keeping a bookmark on or a snapshot on your phone!

How do I go about selecting a method?

• Counsel your patient with shared-decision making in mind:

  • Be aware of inequities in provision of menstrual suppression methods and your own biases

  • Share with patients realistic expectations of what each method might offer in the way of menstrual suppression

    • No method can guarantee amenorrhea

  • Take into account patient’s preferences and values

  • Be aware of medical history / medical eligibility criteria that might contraindicate certain methods

    • CDC Contraception App – super helpful to have the MEC handy!

By patient population:

• Adolescents:

  • Hormone therapies are safe for adolescents

  • Initiation of menstrual suppression is safe anytime after menarche!

    • Need to have at least one menstrual period to be certain of normal pubertal development.

  • Pelvic exam is not needed for routine prescription of contraception, unless needed for the actual insertion (i.e., IUD)

    • IUD insertion has been shown to not be any more difficult in adolescents compared to older individuals, nor more difficult in nulliparas compared to parous patients.

  • Other tenets of adolescent reproductive healthcare counseling should be applied:

    • Discuss concerns about any side effects that are common / common concerns - fertility, weight, development, bone health, STIs

    • Use the opportunity to establish healthy alignment with adolescent at the OB/GYN office to establish as a safe place for current & future care

• Transgender / Gender Diverse Patients

  • Menstrual suppression can help reduce feelings of gender dysphoria associated with menstruation

  • Testosterone use for gender-affirming care is associated with amenorrhea, often within a few months of starting therapy.

  • GnRH is also capable of pubertal blockade and suppression of menses for gender-affirming therapy, with amenorrhea rates nearing 100%.

    • Testosterone and GnRH are not contraceptives, though - so if they are at risk of pregnancy, contraception should be discussed

    • GnRH also cannot be used long term given concerns for bone density effects.

• Patients with physical or cognitive disabilities, or both

  • Particularly for patients with cognitive disability, menstruation is a significant source of anxiety for caregivers and is a common reason for visit for pediatric gynecology clinics, even among premenarchal patients

  • Adolescents and adults with disabilities are also often assumed (erroneously) to be asexual and do not receive sexuality and contraceptive counseling on par with their peers

    • These individuals are also at increased risk of sexual abuse and unintended pregnancy

  • Assist families with developmentally-appropriate education and family assistance with hygiene concerns, contraception, STIs, and abuse prevention

  • Menstrual suppression methods can follow the patient’s needs, preferences, and values. 

    • Consider in these patients their mobility and presence of contractures; swallowing ability for pills; and presence of other interacting drugs (i.e., antiepileptics).

    • If plan for LARC and anesthesia required, it can be considered to “bundle” together services like dental work to minimize patient exposures to anesthetics

  • If patient doesn’t have capacity to make independent decision, menstrual suppression discussions should be made with the caregiver in patient’s best insterest.

    • Ethical and prudent choice is reversible and low-risk options.

• Populations with challenges affecting hygiene/privacy

  • Military deployment

  • Incarceration

  • Houselessness

  • Patients in war zones or difficulty with care access

  • Athletes

    • Obviously hard to think about all of the potentials here, but consider patient access to medical services, sanitary products, restrooms or private areas, in making shared-decision making on menstrual suppression

How do I manage breakthrough bleeding?

• One of the most common challenges in menstrual suppression

• Anticipatory counseling that this is common is helpful in reducing method discontinuation rates and improving method satisfaction, as well as reassuring that BTB is benign and common.

  • Reassure that with some methods BTB decreases or ceases after some time period of initial use

Polyhydramnios

Reading:  SMFM Consult Series: #46: Evaluation and management of polyhydramnios 

What is polyhydramnios? 

• Definition 

  • Abnormal increase in amniotic fluid volume 

  • Using ultrasonography, defined: 

    • Single deepest vertical pocket (DVP) of fluid >/= 8 cm or 

    • Amniotic fluid index (AFI) >/= 24 cm 

• Prevalence: can complicate 1-2% of singleton gestations, but it is more common in twin gestations, primarily due to complications of monochorionic placentation 

• Degree of polyhydramnios 

  • AFI of 24.0-29.9 cm or DVP 8-11 cm = mild (65-70% of cases) 

  • AFI of 30.0-34.9 cm or DVP of 12-15 cm = moderate (20% of cases) 

  • AFI of >/= 35 cm or DVP >/16 cm = severe (<15%)

What causes polyhydramnios, and how do we counsel patients? 

View fullsize

• Most cases are mild and idiopathic 

• When etiology is identified, most commonly due to fetal anomaly or maternal diabetes

  • Most anomalies have to do with swallowing issues 

    • GI obstruction: ie. duodenal atresia, TE fistula, thoracic mass, diaphragmatic hernia  

    • Neuro-muscular: Myotonic dystrophy, arthrogryposis, intracranial anatomy 

    • Craniofacial: cleft lip/palate, micrognathia, neck mass  

  •  Fewer due to excess urine production 

    • Renal/urinary - UPJ obstruction, mesoblastic nephroma, Bartter syndrome 

    • Cardiac (basically lesions that lead to high output cardiac failure as well): cardiac structural anomaly, tachyarrhythmia, sacrococcygeal teratoma, chorioangioma 

    • Osmotic diuresis/Other: maternal diabetes, hydrops, idiopathic 

• What evaluations should be done? 

  • Fetal growth

  • Fetal cardiac anatomy 

  • Placenta for presence of large chorioangiomas 

  • Fetal movement to assess neurological function 

  • Position of hands/feet ot rule out arthrogryposis syndromes 

  • Presence and size of fetal stomach to r/o tracheoesophageal fistula or esophageal atresia 

  • Anatomy of fetal face/palate 

  • Positioning and appearance of fetal neck to r/o obstructing mass 

  • Fetal kidney to assess for UPJ obstruction 

  • Lower spine and pelvis for evidence of sacrococcygeal teratoma 

• How worried should the patient be? 

  • Most mild polyhydramnios is idiopathic or due to T2DM, and only 6-10% risk of fetal anomaly, with 1% of neonatal abnormality 

  • However, with severe poly, there is increased risk of fetal anomaly to as high as 20-40% and even risk of neonatal abnormality of 10% 

  • Therefore, those with severe poly should deliver at tertiary care center due to possibility for fetal anomaly

How do we manage polyhydramnios in pregnancy? 

• Treatment 

  • If the poly is severe enough to cause maternal respiratory compromise, significant discomfort, or preterm labor → this can have underlying etiology 

  • In cases of severe poly that results in maternal respiratory compromise or other discomfort, then amnioreduction can be done 

    • However, the polyhydramnios will usually recur 

  • Indomethacin can decrease fetal urine output 

    • There have been studies looking at women who took indomethacin after amnioreduction to try and decrease reaccumulation and re-amnio 

    • However, preterm infants exposed to indomethacin in utero have decreased neonatal urine output and also elevated serum creatinines 

    • Therefore, indomethacin should not be used for sole purpose of decreasing amniotic fluid in the setting of poly 

• Antepartum management 

  • Many studies have shown that idiopathic poly has been associated with infant birth weight >4000g in 15-30% of cases 

  • Reports of whether perinatal mortality is increased with idiopathic poly have been inconsistent 

    • Currently recommendation from SMFM is that antenatal fetal surveillance is not required for the sole indication of mild idiopathic poly 

    • Similarly, recommendation is that labor should be allowed to occur spontaneously at term for women with mild idiopathic poly, and that induction, if planned, should not occur at <39 weeks of gestation in the absence of other indications 

    • Most of delivery should be determined based on usual obstetric indications