Volume 02 · Issue 04 · 2020

Over the past 50 years, the scope and extent of prenatal diagnosis and screening for genetic disorders have improved geometrically. There has been a pendulum like swing from testing to screening back and forth as new technologies emerge. The concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards screening. However, with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures (Chorionic villus sampling and amniocentesis), much more extensive diagnosis can be obtained. Until noninvasive methods can replicate what can be done with diagnostic procedures there still will be a "price to be paid" for opting for the non-invasive methods.

Intraamniotic infection (IAI) or chorioamnionitis is a common cause of preterm birth and may cause adverse neonatal outcomes, including neonatal pneumonia, respiratory distress, meningitis, sepsis, and death. Maternal morbidities from intraamniotic infection include dysfunctional labor requiring increased intervention, cesarean birth, postpartum uterine atony with hemorrhage, endometritis, peritonitis, sepsis, adult respiratory distress syndrome and, rarely, death. Chorioamnionitis can result from an ascending infection, iatrogenic causes or transplacental passage from maternal blood-borne infections. The clinical findings of chorioamnionitis include maternal fever (≥38 °C), maternal (>100 beats per minute) and/or fetal tachycardia (>160 beats per minute), maternal leukocytosis on complete blood count (>15 000 cells/mm³), and uterine tenderness and/or purulent and/or foul-smelling amniotic fluid. The management of chorioamnionitis mainly includes antibiotic therapy and delivery. Women with previable preterm premature rupture of membranes should be offered realistic counseling from a multidisciplinary approach. The separation of the mother and the fetus to preserve the life of the mother should prioritize delivery methods that result in a living fetus if possible, with appropriate neonatal resuscitation available.

Sepsis, which is life-threatening organ dysfunction resulting from a dysregulated host response to infection, remains a major cause for the admission of pregnant women to the intensive care unit and is one of the leading causes of maternal morbidity and mortality. The obstetric causes include uterine infection, septic abortion, and wound infection. The non-obstetric causes include pyelonephritis and pneumonia. Maternal sepsis may also be from obstetrical critical illness, such as obstetric severe hemorrhage, obstetric (amniotic fluid/pulmonary) embolism, acute fatty liver of pregnancy, and congestive heart failure, cardiopulmonary arrest, and major trauma. The most commonly reported pathogens in maternal sepsis include Escherichia coli, Streptococcus, Staphylococcus, and other gram-negative bacteria. Maternal sepsis may cause intrauterine infection, which results in (1) preterm premature rupture of membranes or preterm labor or birth, (2) cerebral white matter damage or cerebral palsy or neurodevelopmental delay, (3) stillbirth, (4) early- or late-onset sepsis, and (5) perinatal death. The "Hour-1 bundle" should be initiated within the first hour of the recognition of sepsis. The use of early, appropriate antibiotics is crucial in the management of maternal sepsis. Fetal status should be monitored. Appropriate and early source control should be provided. The decision for delivery is often quite complex and should be individualized to each patient’s clinical scenario while taking into consideration the suspected source of infection, maternal status, fetal well-being, and gestational age. Extracorporeal membrane oxygenation has been increasingly used in refractory sepsis during pregnancy and the puerperium.

Fetal cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) which is an autosomal dominant hereditary neurocutaneous disease with an incidence of approximately 1 in 5 000 to 10 000 live birth. It is caused by mutations in the TSC1 or TSC2 gene, de novo mutations accounting for approximately 80% of TSC cases, which can involve multiple organs and systems such as the heart, brain, kidney, lung, skin, and so on. Cardiac rhabdomyoma is the most common fetal heart tumor, accounting for about 60% of cases. It is closely related to TSC and may be the only manifestation of TSC which occurs during pregnancy. This study retrospectively analyzed the clinical data of a neonate with TSC diagnosed with fetal cardiac rhabdomyomas and confirmed by amniocentesis prenatal diagnosis as gene testing TSC1 gene positively. The parents had no such mutation. However, due to the influence of the sudden coronavirus disease 2019 (COVID-19) epidemic, the TSC genetic test report was not obtained until 38 weeks of pregnancy. Multiple hypo-pigmented spots (diameter >5 mm) were found immediately after birth. The characteristic cardiac feature of TSC is a rhabdomyoma and the diagnosis of TSC is based upon genetic testing and multiple ultrasound examinations or magnetic resonance imaging. Most patients with TSC have epilepsy, and one-half or more have cognitive deficits and learning disabilities. So rigorous follow-up will continue for the case we reported.

Harlequin ichthyosis is a severe autosomal recessive skin disorder. Most deaths occur within the first few days after birth, and the survivors still have severe chronic skin disease throughout their lives. Almost all cases were associated with a pathogenic variant of adenosine triphosphate binding cassette transporter, subfamily A, member 12 (ABCA12) gene. We described a case of HI diagnosed by ultrasound examination during the second-trimester and genetic diagnosis reveal two novel heterozygous ABCA12 mutations c.2563-2570delinsGGCAATT, p.(Leu855Glyfs*13), and c.6116delT, p.(Met2039Argfs*8) by the next-generation DNA sequencing, which further enriched our understanding of the pathogenic variation of ABCA12 gene.

Breast neuroendocrine carcinoma is a rare entity. It constitutes less than 0.5% of breast malignancies, and is usually diagnosed in older women. The occurrence of this type in young patients during pregnancy is extremely rare. Only 2 cases were previously reported. Both were diagnosed at earlier stage with the appearance of a palpable breast mass. Hereby, we present the case of a young patient at 28 weeks’ gestation admitted for severe diffuse back pain and neurologic deficit due to spinal cord compression at the level of C5 vertebra, and nerve root compression at the level of L5 vertebrae. To the best of our knowledge, this is the first case of oncologic emergency during pregnancy due to a metastatic poorly differentiated breast carcinoma with neuroendocrine differentiation in the absence of a detectable primary focus of malignancy in the breast. We also discuss the management and the obstetrical outcome of this patient.

On April 3, 2020, a 37-year-old woman successfully completed heart valve replacement after cesarean section 67 hours in the First Affiliated Hospital of Harbin Medical University.The woman underwent the mechanical mitral valve replacement in the same hospital 10 years ago. She used low molecular weight heparin instead of warfarin, when she realized her pregnancy. On March 25, 2020 (28⁺⁵ weeks of gestation), due to New York Heart Association class IV, severe pneumonia, type I respiratory failure, the patient was admitted to the hospital for treatment. Three days later, she discharged herself from hospital by refusing the cesarean section. The next day she was re-admitted to the ward because of the worsen symptoms and oliguria. Cesarean section was performed 50 hours after admission. The neonate was 1 400 g; Apgar score was 5 in 1 minute, 8 in 5 minutes, transferred to neonatal intensive care unit. Because of the unrecovered heart function, she was confirmed stuck mechanical prosthetic mitral valves. On April 3, 2020, through multi-disciplinary cooperation, the patient was safe without any life-threatening emergency. Eleven days after the replacement, the patient was discharged smoothly, so was the neonate 33 days after delivery.