Prenatal genomic testing for ultrasound detected fetal structural anomalies
ABSTRACTKey content
In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to uncover a unifying genetic diagnosis.
There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.
The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.Learning o...
Source: The Obstetrician and Gynaecologist - March 12, 2023 Category: OBGYN Authors: Kelly Reilly,
Caoimhe McKenna,
Simon McCullough,
Shane McKee,
Fionnuala Mone Tags: Review Source Type: research
Consenting, competence and confidentiality in paediatric adolescent gynaecology
AbstractKey contents
Clinicians can often face dilemmas in the care of adolescents owing to the lack of understanding over the legal rights and ethical responsibilities involved in their care.
A clinician looking after an adolescent should have a good understanding of the principles of adolescent consenting.
Often it is necessary to involve the multidisciplinary team and, in extreme circumstances, the court when there is a dispute regarding the competence of the adolescent to consent.
Every unit should ensure that they have guidelines for paediatric adolescent gynaecology (PAG) consenting.
Areas requiring specific consider...
Source: The Obstetrician and Gynaecologist - March 10, 2023 Category: OBGYN Authors: RN Pillai,
M Narayanan,
M Choudhary Tags: Review Source Type: research
Spotlight on. abortion care
(Source: The Obstetrician and Gynaecologist)
Source: The Obstetrician and Gynaecologist - March 9, 2023 Category: OBGYN Authors: Katy Sutcliffe,
Nicola Mullin Tags: Spotlight Source Type: research
A race to the finish line
(Source: The Obstetrician and Gynaecologist)
Source: The Obstetrician and Gynaecologist - March 7, 2023 Category: OBGYN Authors: Isioma Dianne Okolo,
Malini Prasad,
Farah Siddiqui,
Jo Mountfield,
Rehan Khan,
Susan Ward,
Elisabeth Peregrine,
Karen Joash,
Simon Bowen,
Bridget Agboola,
Carly Edwards,
Sarah Elkhatim,
Sonia Dore,
Ranee Thakar Tags: Commentary Source Type: research
Non ‐immune hydrops fetalis: a practical guide for obstetricians
AbstractKey content
Hydrops fetalis is the accumulation of two or more fetal fluid collections, including pericardial effusion, pleural effusion(s), ascites and skin oedema.
In the absence of red cell alloimmunisation, hydrops fetalis is non-immune and affects approximately 1 in 2000 pregnancies.
Non-immune hydrops fetalis (NIFH) is associated with severe perinatal morbidity/mortality and significant maternal risks, including maternal mirror syndrome.
Priorities for clinicians are determining the cause antenatally to optimise management and discuss treatment options, if available.
Systematic reviews have indicated that a c...
Source: The Obstetrician and Gynaecologist - February 28, 2023 Category: OBGYN Authors: Delima Khairudin,
Zarko Alfirevic,
Fionnuala Mone,
Kate Navaratnam Tags: Review Source Type: research
Acute coronary syndromes in pregnancy: a literature review
AbstractKey content
Maternal mortality from cardiovascular disease has not improved in almost 20 years; this contrasts to significant sustained improvement in cardiovascular outcomes in the nonpregnant population, particularly regarding acute coronary syndrome (ACS).
Many of the women who died in recent MBRRACE-UK reports presented with cardiac symptoms and signs, but this was not always rec ognised upon clinical review.
The incidence of ACS is increasing alongside advancing maternal age, with an accompanying increased prevalence of typical and pregnancy-specific cardiac risk factors.
Early involvement of senior clinici...
Source: The Obstetrician and Gynaecologist - February 21, 2023 Category: OBGYN Authors: Amy Freeman,
Gareth Squire,
Anna Herrey,
Kai Hogrefe,
Rebecca Allen Tags: Review Source Type: research
vNOTES (vaginal Natural Orifice Transluminal Endoscopic Surgery): is this the future of gynaecological surgery?
(Source: The Obstetrician and Gynaecologist)
Source: The Obstetrician and Gynaecologist - February 20, 2023 Category: OBGYN Authors: Wai Yoong,
Victoria Sampson,
Lusekelo Mwenechanya,
Jan Baekelandt Tags: Commentary Source Type: research
Re: Working remotely: a perspective on telemedicine in delivery of obstetrics and gynaecology health care
(Source: The Obstetrician and Gynaecologist)
Source: The Obstetrician and Gynaecologist - February 14, 2023 Category: OBGYN Authors: Jacqueline Sia,
Sophie Strong,
Triada Doulgeraki,
Emily Benson,
Elizabeth Ball Tags: Letter to the Editor Source Type: research
