The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to...

Abstract Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the screening. Recently, widespread use of NIPT caused neglecting limitations this technology. Case presentation The 38-year-old woman underwent amniocentesis because high risk trisomy 2 revealed by genome-wide Non-Invasive Prenatal Test (NIPT). invasive diagnosis mosaicism for small super...

OBJECTIVE To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis ...

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...

Lymphatic malformation (LM) is a localized and rare benign anomaly of the lymphatic system. Surgery is the primary form of treatment, but total resection is difficult and generally not possible. The least invasive and most effective form of treatment is injection sclerotherapy with sclerosing agents. Here, we report a case of LM in a baby, detected at prenatal ultrasound. The aim of this report...

Prenatal screening and testing for trisomy 21 in twin pregnancies poses a number of challenges: the exact estimate of the a priori risk of trisomy 21, the choice of prenatal screening test and/or invasive techniques to employ for the diagnosis and the impact of the result on the options of treatment in case of discordant results within a twin pair or among multiples. These different aspects are...

Leroy I cell disease is a rare autosomal recessive disorder which progressively leads to death within the first decade of life. Invasive prenatal diagnosis is possible but is only undertaken in families who have previously had an affected child. We describe the antenatal ultrasound diagnosis of the disease in a case referred at 30 weeks' gestation for suspected polyhydramnios.