Ripudaman Singh

Introduction: Identifying hydatidiform moles (HMs) is crucial due to the risk of gestationaltrophoblastic neoplasia. When a HM is suspected on clinical findings, surgical termination isrecommended. However, in a substantial fraction of the cases, the conceptus is actually a nonmolar miscarriage. If distinction between molar and non-molar gestations could be obtainedbefore termination, surgical intervention could be …

Diagnosis of hydatidiform moles using circulating gestational trophoblasts isolated from maternal blood Read More »

Objectives: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop …

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants Read More »

Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an earlygestational age and ideally test the twins individually. …

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy Read More »

Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a highbackground of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal …

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT Read More »