In 2002, the Human Fertilisation and Embryology Authority (HFEA) published its decision in the case of Raj and Shahana Hashmi. The couple had sought to use preimplantation genetic diagnosis (PGD) to have a child that could be a viable donor for their son, Zain, who has thalassaemia. The HFEA decided that PGD could, in the present case, go ahead. Later in 2002, the HFEA reached the opposite decision in the superficially similar case of Michelle and Jayson Whitaker. This paper will present a critical overview of the decisions of the HFEA in these two cases, and of the opinions and discussions the HFEA published in support thereof. Although it is acknowledged that the two cases differ to some extent in their facts, it is argued that the difference upon which the HFEA relied is one without ethical significance.
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http://dx.doi.org/10.1080/1464770312331368943 | DOI Listing |
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFReprod Fertil
January 2025
M Bazrgar, Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Tehran, Iran (the Islamic Republic of).
It is believed that aneuploid embryos release cell-free DNA (cfDNA) into the blastocyst cavity during the self-correction process through the apoptotic mechanism. This study aimed to develop less invasive methods for predicting ploidy status by investigating how ploidy status affects blastocoel fluid DNA (BF-DNA) levels and apoptotic gene expression as indicators of embryo viability. Human blastocysts were classified into three groups; Survivable Embryo (SE), Fatal Single and double Aneuploidy (FSDA), and Multiple Aneuploidy (MA) using array comparative genomic hybridization (array-CGH) by trophectoderm (TE) biopsy.
View Article and Find Full Text PDFInt J Reprod Biomed
November 2024
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Background: Embryo selection for transfer is critical in assisted reproduction. The presence of DNA in the blastocoel cavity of human blastocysts is assumed to be a consequence of common preimplantation chromosomal abnormalities.
Objective: This study examined the relationship between the amount of blastocoel fluid (BF) DNA and the band intensity of amplified BF-DNA in gel electrophoresis, considering the influence of ploidy status.
Aust N Z J Obstet Gynaecol
January 2025
Reproductive Services Unit, The Royal Women's Hospital, Parkville, Australia.
Background: Modern assisted reproductive technology (ART), including pre-implantation genetic testing for aneuploidy (PGT-A), has opened new avenues in understanding early embryonic events and has simultaneously raised questions about the impact of ART itself on sex ratios.
Aims: The primary aim was to investigate whether patient demographic characteristics, ovarian stimulation protocols or laboratory characteristics in ART influence sex ratios. The secondary aim was to relate the blastocyst sex ratio (BSR) to the corresponding secondary sex ratio (SSR) in our patient cohort.
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
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