Implications for prenatal genetic testing after reversal of Roe v. Wade in the United States
Prenatal genetic screening and diagnostic testing should be offered in every pregnancy as a standard of care in the United States. This testing is important for patients who choose to continue their pregnancies, but it is also common for patients to choose termination after a positive result. Options for diagnostic testing vary by gestational age, with chorionic villus sampling (CVS) offered at an earlier gestational age (10-13 weeks) than amniocentesis (15 weeks gestation). Our objective was to determine the effect of new gestational age-based abortion restrictions on options for feasible genetic diagnostic testing by sta...
Source: American Journal of Obstetrics and Gynecology - January 1, 2023 Category: OBGYN Authors: Megan Raymond, Julie Barbera, Sarah Boudova, Rodney A. McLaren, Huda B. Al-Kouatly Tags: Poster Session IV Source Type: research
Treacher Collins syndrome: A case report and review of literature
AbstractTreacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist...
Source: Clinical Case Reports - December 28, 2022 Category: General Medicine Authors: Nadia Kolsi,
Fatma Boudaya,
Afef Ben Thabet,
Manel Charfi,
Chiraz Regaieg,
Amira Bouraoui,
Ridha Regaieg,
Nedia Hentati,
Amel Ben Hamed,
Abdellatif Gargouri Tags: CASE REPORT Source Type: research
Pitfalls of prenatal diagnosis associated with mosaicism
Discussion of the limitations and implications is essential and referral to clinical genetics may be warranted.Learning objectives
To understand the embryological causes for and types of fetal placental mosaicism.
To appreciate underlying principles in NIPT and genomic testing strategies in relation to mosaicism.
To follow suggested clinical management principles in relation to prenatal test counselling.Ethical issues
Clinicians face a dilemma following a high-risk NIPT result in the setting of normal ultrasound. Awaiting long-term culture, as opposed to short-term culture on CVS, or amniocentesis delays potential terminat...
Source: The Obstetrician and Gynaecologist - December 21, 2022 Category: OBGYN Authors: Kelly Reilly,
Samantha Doyle,
Susan J Hamilton,
Mark D Kilby,
Fionnuala Mone Tags: Review Source Type: research
Genes, Vol. 13, Pages 2257: Whole-Chromosome Karyotyping of Fetal Nucleated Red Blood Cells Using the Ion Proton Sequencing Platform
Mahesh Choolani
The current gold standard for the definitive diagnosis of fetal aneuploidy uses either chorionic villus sampling (CVS) or amniocentesis, both of which are which are invasive procedures carrying a procedure-related risk of miscarriage of up to 0.1%–0.2%. Non-invasive prenatal diagnosis using fetal nucleated red blood cells (FNRBCs) isolated from maternal peripheral venous blood would remove this risk of miscarriage since these cells can be isolated from the mother’s blood. We aimed to detect whole-chromosome aneuploidies from single nucleated fetal red blood cells using whole-...
Source: Genes - November 30, 2022 Category: Genetics & Stem Cells Authors: Angela N. Barrett Zhouwei Huang Sarah Aung Sherry S. Y. Ho Nur Syazana Roslan Aniza P. Mahyuddin Arijit Biswas Mahesh Choolani Tags: Article Source Type: research
Manuscript title: Pitfalls of prenatal diagnosis associated with mosaicism
Discussion of the limitations and implications is essential and referral to clinical genetics may be warranted.Learning objectives• To understand the embryological causes for and types of fetal placental mosaicism.• To appreciate underlying principles in NIPT and genomic testing strategies in relation to mosaicism.• To follow suggested clinical management principles in relation to prenatal test counselling.Ethical issues
Clinicians face a dilemma following a high-risk NIPT result in the setting of normal ultrasound. Awaiting long-term culture or amniocentesis delays potential termination of pregnancy.
Sex chromosome ...
Source: The Obstetrician and Gynaecologist - November 29, 2022 Category: OBGYN Authors: Kelly Reilly,
Samantha Doyle,
Susan J Hamilton,
Mark D Kilby,
Fionnuala Mone Tags: Review Source Type: research
Majority of transferred mosaic embryos developed healthy live births revealed by a preclinical study using embryonic morphology assessment and noninvasive PGT-A on cell-free DNA in blastocoel fluid
ConclusionsTransferred EMA-selected embryos showed higher implantation rates. The niPGT-A of BF provided valuable genetic status ( “-ploid”) information, which helped reduce aneuploid-induced implantation failure and miscarriage, thereby increasing the CP and HLB rates. Additionally, majority of the transferred embryos with complex/chaotic mosaic aneuploid would likely develop HLBs. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - November 24, 2022 Category: Reproduction Medicine Source Type: research
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
Rev Endocr Metab Disord. 2022 Nov 18. doi: 10.1007/s11154-022-09770-5. Online ahead of print.ABSTRACTCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if need...
Source: ENDOCR REV - November 18, 2022 Category: Endocrinology Authors: Jacqueline Yano Maher Veronica Gomez-Lobo Deborah P Merke Source Type: research
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
Rev Endocr Metab Disord. 2022 Nov 18. doi: 10.1007/s11154-022-09770-5. Online ahead of print.ABSTRACTCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if need...
Source: ENDOCR REV - November 18, 2022 Category: Endocrinology Authors: Jacqueline Yano Maher Veronica Gomez-Lobo Deborah P Merke Source Type: research
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
Rev Endocr Metab Disord. 2022 Nov 18. doi: 10.1007/s11154-022-09770-5. Online ahead of print.ABSTRACTCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if need...
Source: ENDOCR REV - November 18, 2022 Category: Endocrinology Authors: Jacqueline Yano Maher Veronica Gomez-Lobo Deborah P Merke Source Type: research
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
Rev Endocr Metab Disord. 2022 Nov 18. doi: 10.1007/s11154-022-09770-5. Online ahead of print.ABSTRACTCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if need...
Source: ENDOCR REV - November 18, 2022 Category: Endocrinology Authors: Jacqueline Yano Maher Veronica Gomez-Lobo Deborah P Merke Source Type: research
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
AbstractCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in theCYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if needed. Due to the possible pregnancy complications and implications on the offspring, preconcepti...
Source: Reviews in Endocrine and Metabolic Disorders - November 18, 2022 Category: Endocrinology Source Type: research
