Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen.

Expanded carrier screening identifies individuals who are at risk of having a child with an autosomal recessive condition. The most accurate risk assessment requires that both mother and father undergo carrier screening to determine whether they are carriers of the same autosomal recessive condition. A couple identified as carriers of the same condition has a 25% chance of having a child with that condition. However, the father does not always opt for carrier screening following a positive result in the mother. This study aimed to identify barriers that prevent the father from carrier screening after a positive finding in the mother. A total of 58 women participated in this study. All participants had undergone expanded carrier screening prior to the study and had met with a genetic counselor for a pre-test, informed consent session. Of the 58 women, 34 had partners who did not undergo screening and 24 had partners who did. Participants completed a survey to determine the barriers that prevented the father of the baby's participation. We report that the mother's insurance type, whether the father has insurance, relationship status, and knowledge of the carrier screen showed statistically significant differences between women whose partners underwent screening and those that did not. In summary, our finding suggests that increasing insurance coverage of paternal screening and improving the patient's knowledge of the expanded screen would encourage paternal screening.

The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.

BACKGROUND: The cause of primary immunodeficiency has expanded to nearly 200 distinct disorders. An improved understanding of these disorders has resulted in decreased morbidity and mortality with reciprocal improved life expectancy. Obstetricians should have knowledge of primary immunodeficiency, as more women with these disorders will reach reproductive age. CASE: 21-year-old G1P0 with purine nucleoside phosphorylase (PNP) deficiency delivered a viable infant vaginally at 37 weeks. Although the patient's diagnosis and pregnancy placed her at increased risk for infection, she remained asymptomatic and infection-free throughout pregnancy. CONCLUSION: The management of pregnancy complicated by PNP deficiency requires strict immune surveillance and regimented immunoglobulin replacement.

Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

Percutaneous debulking of tricuspid vegetations due to infectious endocarditis in pregnancy: a case report.

Infective endocarditis is a rare but serious disease with increasing prevalence in women of childbearing age because of the opioid epidemic. Therefore, it is an increasingly frequent pregnancy complication. The gold standard of treatment is intravenous antibiotics with surgery reserved for refractory cases. However, pregnancy complicates decisions about the risk and timing of surgery. AngioVac represents a percutaneous alternative to surgical intervention. Here, we present a case of a 22-year-old G2P1001 woman with a history of intravenous drug use and infective endocarditis who continued to show signs and symptoms of septic pulmonary emboli despite management with intravenous antibiotics. The patient was deemed not to be a surgical candidate while pregnant and had an AngioVac procedure at 30 2/7 weeks of gestation with the removal of tricuspid vegetations. The patient was delivered via cesarean delivery at 32 5/7 weeks of gestation because of a nonreassuring fetal heart tracing. The patient's tricuspid valve was replaced on postpartum day 16. This case demonstrates that AngioVac can be safely used in the third trimester of pregnancy and may be considered in consultation with a multidisciplinary team for the management of infective endocarditis refractory to antibiotic treatment as an interim measure until surgery can be safely performed.

A comparison of depression symptoms and histories in pregnant women.

OBJECTIVE: To identify the prevalence of depression symptoms in an obstetric population. STUDY DESIGN: A cross-sectional survey of a diverse group of urban and suburban pregnant women was performed. Self-reported depression history, demographics and current depression symptoms measured by a validated survey instrument were obtained. RESULTS: Of 309 women surveyed, 21.3% reported a prior or current diagnosis of depression, 47% reported past symptoms of depression and 21% noted current depression symptoms. Suburban women more often reported histories of depression, as did Caucasians, when compared with other ethnicities. A logistic regression demonstrated that prior diagnosis of depression was the strongest predictor of current depression symptoms (odds ratio 4.39, 95% confidence interval 2.12-9.07). CONCLUSION: Depression is common in pregnant women, and it is important for providers to screen patients, particularly those with a history of a depression diagnosis.

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum.

Objective To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as compared with our own diagnostic experience. Study Design A comprehensive literature review of diagnostic criteria of fetal VBWD including pentalogy of Cantrell (POC), omphalocele, exstrophy, imperforate anus, spina bifida (OEIS), cloacal exstrophy, limb-body wall complex (LBWC), and body stalk anomaly was performed followed by a retrospective review of all fetal magnetic resonance imaging (MRI) examinations from our medical center over a 2-year period. Results Classically, OEIS is omphalocele, bladder exstrophy, imperforate anus, and spina bifida. POC is defects of the supraumbilical abdomen, sternum, diaphragm, pericardium, and heart. LBWC is two of the following: exencephaly or enencephaly with facial clefts, thoracoschisis or abdominoschisis, and limb defects. Twenty-four cases of VBWD on MRI over a 24-month period were identified with seven cases involving defects of additional organ systems. Six of these seven cases demonstrated findings from two or more of the traditional diagnoses POC, OEIS, and LBWC making diagnosis and counseling difficult. Conclusion There is a lack of consensus on useful diagnostic criteria within the published literature which is reflected in our own diagnostic experience and poses a challenge for accurate prenatal counseling.

Prevalence of maternal cell contamination in amniotic fluid samples.

PURPOSE: The purpose of this study is to evaluate the incidence of maternal cell contamination (MCC) in the first few milliliters of amniotic fluid withdrawn during amniocentesis. METHODS: A prospective observational study was performed. The initial 2-3 ml of amniotic fluid withdrawn during amniocentesis was divided into direct analysis (uncultured) and cultured samples. A matching maternal buccal swab was obtained for MCC testing. MCC was determined by short-tandem repeat analysis. The primary outcome was measurement of clinically significant contamination (MCC >5%). Secondary outcomes included the determination of risk factors associated with MCC >5%. Outcomes were assessed by fisher's exact, independent t-test, binary logistic regression, and ANOVA. RESULTS: Direct analysis measured clinically significant contamination (MCC > 5%) in 26% of specimens, while any amount of MCC was present in 68% of specimens. Cultured specimens had MCC > 5% in 2%, and any amount of MCC in 24%. Only blood-tinged fluid was associated with an increased risk for MCC > 5%. Larger volumes of the discard sample were not associated with increased incidence of MCC greater than 5%. CONCLUSION: A significant amount of MCC is present with direct analysis of the initial few milliliters of amniotic fluid withdrawn and is not influenced by the volume of the discard sample. Our results suggest that the first few milliliters of amniotic fluid be removed and discarded when direct analysis is utilized for prenatal genetic testing.

Comprehensive Review of the Stillborn Placenta.

Stillbirth is a common complication of pregnancy, affecting one in every 160 women in the United States who are pregnant. Stillbirth has a significant adverse medical and psychological impact on families. Identifying the cause of stillbirth can yield recommendations for the management of future pregnancies, provide a risk of recurrence, and give families a sense of closure. The placental examination is one component of a comprehensive stillbirth investigation. A systematic approach to the examination of the placenta is presented, along with an explanation of critical findings that have been associated with stillbirth. A checklist for placental evaluation by the provider who attends the birth is provided, along with information on stillbirth assessment programs.

Management of a pregnancy complicated by pompe disease.

Background. As more women with metabolic muscle diseases reach reproductive age, knowledge of these diseases and their impact on pregnancy is necessary. Case. 23-year-old G1P0 with juvenile-onset Pompe disease (PD) delivered a viable infant by cesarean section at 32 weeks and 6 days. The pregnancy was complicated by worsening maternal pulmonary status, muscular strength, and mobility. Conclusion. The management of pregnancies complicated by Pompe disease requires a multidisciplinary approach, including expertise in neuromuscular disease, maternal-fetal medicine, biochemical genetics, pulmonology, anesthesia, and dietetics.