Intrauterine Fetal Blood Transfusion (IUBT) for Rh Incompatibility - 12 Years' Experience from Pakistan.

Objective: To determine the perinatal outcome of pregnancies complicated by Rh-alloimmunisation, requiring intrauterine blood transfusion.

Study Design: Observational study.

Place And Duration Of Study: Feto-maternal Unit of Gene Tech Laboratory, Lahore, from 2007 to 2019.

Pakistani mothers' and fathers' experiences and understandings of the diagnosis of Down syndrome for their child.

Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents' experiences of the diagnosis of DS in Pakistan.

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Background: Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causative to date.

Methods: Families diagnosed with Meckel-Gruber syndrome were recruited for research studies following informed consent.

Experiences of parents with a child with Down syndrome in Pakistan and their views on termination of pregnancy.

It has been argued that Down syndrome (DS) is as much a cultural creation as a biomedical condition, yet the majority of research in this area has been conducted in 'Western' cultures. This study explored parents' experiences of their child with DS in Pakistan and their views on abortion for the condition. Thirty mothers and fathers of children with DS took part in qualitative interviews.