Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol.

OBJECTIVE: To evaluate the performance of a laboratory protocol for direct genetic analysis performed on tissues obtained from miscarriages, stillbirth and postnatal death. METHODS: Samples were collected between July 1st, 2011 and June 30th, 2014. QF-PCR analysis was the initial test followed by aCGH analysis performed on the normal QF-PCR specimens. RESULTS: Of the 1195 submitted specimens, a total of 1071 samples were confirmed as true fetal. The failure rate was 1.4%. Of those, 30.8% yielded abnormal results. Of the latter, 57.6% had abnormal QF-PCR and 42.4% had abnormal microarray result. Autosomal trisomies were detected in 61.2%, triploidy in 7.6%, monosomy X in 9.1%, sex-chromosome aneuploidy (apart from monosomy X) in 1.5%, molar pregnancies in 5.8% and copy number variants in 14.2% including microdeletions/microduplications and cryptic unbalanced rearrangements. The highest diagnostic yield was observed in the 1st trimester specimens at 67.6%. We confirmed that maternal age correlates with the likelihood of autosomal trisomies but not with triploidy, sex chromosome aneuploidies, molar pregnancy, or CNVs. CONCLUSION: An efficient laboratory protocol, based on QF-PCR and aCGH of uncultured cells has replaced standard cytogenetic analysis in testing of tissue from all pregnancy losses in our center and resulted in reduced test failure rate and increased diagnostic yield.

Pregnancy outcomes and ultrasonographic diagnosis in patients with histologically-proven placental chorioangioma.

OBJECTIVE: To evaluate pregnancy outcome and ultrasound diagnosis in patients with histologically-confirmed placental chorioangioma. STUDY DESIGN: Placentas with histological diagnosis of chorioangioma were identified and medical charts were reviewed for findings of ultrasound examinations. Pregnancy outcomes were compared with all singleton deliveries without chorioangioma in the same time period. MAIN OUTCOME MEASURES: Primary outcome was Neonatal Intensive Care Unit admission rate. Secondary outcome was ultrasound detection rate of chorioangioma. RESULTS: Among 14,725 singleton deliveries, 23 placentas were diagnosed with chorioangioma (0.16%). The control group included all singleton deliveries without chorioangioma (n = 14702). Neonates in the study group were more likely to be admitted to the Neonatal Intensive Care Unit (OR = 4.45) and to have smaller birth weight (p = 0.006). Only 2 of 7 larger chorioangiomas (≥ 2 cm) with available ultrasound reports were identified by ultrasound (29% detection rate). All cases demonstrated normal fetal growth and wellbeing. CONCLUSION: Chorioangiomas are not always identified by routine prenatal sonography. Even in the absence of ultrasonic abnormalities, neonatal morbidity, as measured by NICU admission rate, is increased.