Background With the increasing availability of noninvasive prenatal screening (NIPS) and high‐resolution ultrasound, more cases of sex discordance are being identified in routine clinical practice. This can be a source of much concern for families and clinicians. Knowledge about the limitations of NIPS and reasons for discordant results are critical for counseling parents. Aims Here, we present three cases from a single tertiary care referral center. We also review the literature to address potential limitations of NIPS in correctly identifying fetal sex chromosomes. Materials and Methods After Institutional Review Board approval, cases of discordant fetal sex were identified using ICD‐9 and ICD‐10 codes. In addition, departmental counseling database and cytogenetics laboratory logbooks were reviewed. Results In our first case, a 37‐year‐old G4 P2012 underwent NIPS at 11 weeks gestation and Monosomy X (associated with Turner syndrome) was identified. Morphological sonographic assessment at 20 weeks gestation was consistent with a female fetus following an amniocentesis at 16 weeks that revealed normal 46, XX karyotype. During the third trimester, the patient was diagnosed with Stage IV invasive ductal carcinoma of the breast. Postnatal follow‐up of the neonate was consistent with a phenotypic female. In the second case, a 22‐year‐old G2 P1001 obese female underwent NIPS at 14 weeks gestation and normal 46, XY karyotype was identified. Morphological sonographic assessment at 20 weeks was not consistent with a male fetus. The patient declined invasive testing. Postnatally, the karyotype was 46, XX and the neonate was phenotypically female. The reason for the discordant results was not identified. In the third case, a 25‐year‐old G1 P0 obese female underwent NIPS at 13 weeks gestation and normal 46, XY karyotype was identified. Morphological sonographic assessment at 20 weeks was indeterminate; however, follow‐up at 24 weeks was consistent with a female fetus. The patient declined invasive prenatal testing. Postnatally, the karyotype was 46, XX, and the neonate was phenotypically female with uterus present on ultrasound. The reason for the discordant results was not identified. Discussion Our cases demonstrate possible limitations of NIPS in correctly identifying sex chromosomes. Conclusions Providers and patients need to be aware of these limitations, and invasive diagnostic prenatal testing should be offered in cases of discordance between NIPS and sonographic sex assessment.
Objectives To assess the applicability of a standardized multidisciplinary protocol for managing placenta accreta spectrum (PAS) disorders and its impact on the outcomes. Methods We compared patients with PAS manage by a standardized multidisciplinary protocol (T2) to historic controls managed on a case-by-case basis by individual physicians between (T1). The primary outcome is composite maternal morbidity. Secondary outcomes were the rates of surgical complications, estimated blood loss, number of blood products transfused, intensive care unit admissions, ventilator use, and birth weight. Multivariate logistic analysis was used to identify independent predictors of composite maternal morbidity. Results During T1 and T2, we managed 39 and 36 patients with confirmed PAS, respectively. During T2, the protocol could be implemented in 21 cases (58%). Compared to T1, patients managed during T2 had 70% less composite maternal morbidity (95% CI: 0.11–0.82) and lower blood loss (median, 2,000 vs. 1,100 mL, p=0.008). Also, they were 68% less likely to require transfusion of blood products (95% CI: 0.12–0.81; p=0.01), including fewer units of packed red blood cells (median, 2 vs. 0, p=0.02). Management following the protocol was the only independent factor associated with lower composite maternal morbidity (OR: 0.22; 95% CI: 0.05–0.95; p=0.04). Selected maternal and neonatal outcomes were not different among 12 and 15 patients with suspected but unconfirmed PAS disorders managed during T1 and T2, respectively. Conclusions Most patients can be managed under a standardized multidisciplinary protocol for PAS disorders, leading to improved outcomes.
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