- N Engl J Med 2022; 387:770-772
State fertility-fraud laws prohibit deliberately misrepresenting the source of sperm, eggs, or embryos used to treat infertility. Such legislation could herald an expansion of informed-consent doctrine.
- N Engl J Med 2022; 387:658-660
A study of DNA sequencing of reproductive tissues (e.g., products of conception after miscarriage) to test for aneuploidy supports the use of this approach to guide prenatal and fertility care.
- N Engl J Med 2022; 386:188-190
A recent study involving murine stem cells showed a recapitulation of the entire female germline life cycle, which resulted in fertilizable mouse oocytes in culture. Among approximately 200 resultant two-cell embryos transferred into pseudopregnant dams, 5% resulted in live offspring.
- N Engl J Med 2021; 385:2047-2058
In this multicenter, randomized, controlled trial comparing preimplantation genetic testing for aneuploidy (PGT-A) with conventional IVF in women with a good prognosis, the conventional-IVF group had a cumulative live-birth rate that was noninferior to that after PGT-A at 1 year.
- N Engl J Med 2021; 385:2096-2100
This Sounding Board article discusses the absence of data to support the current widespread use of preimplantation genetic testing for aneuploidy as an example of a broader concern in reproductive medicine.
- N Engl J Med 2021; 385:707-719
A particular class of small noncoding RNAs are transcribed from DNA and then processed by enzymes to generate short oligonucleotides that then control gene expression. This study underscores their relevance to human health and fitness.
- N Engl J Med 2021; 385:87-89
A genomic analysis of 86 placentas revealed a large number of somatic variants — roughly equivalent to those found in pediatric cancer — as well as large clones of cells in every sample, raising implications for the interpretation of prenatal genetic testing.
- N Engl J Med 2021; 385:78-86
Companies now offer genetic screening of embryos according to polygenic risk scores — known as embryo selection based on polygenic scores (ESPS). The authors of this report call for responsible communication about ESPS and for the FTC to help establish what counts as adequate evidence to support claims about expected...
- N Engl J Med 2021; 384:936-943
Round spermatid injection, an assisted reproductive technology, involves the extraction and intracytoplasmic injection of round spermatids, haploid precursors of spermatozoa. This case report underscores the importance of accurate selection of round spermatids.
- N Engl J Med 2020; 383:1785-1786
Nonimmune hydrops fetalis (NIHF) has a striking appearance on ultrasonography and is classically defined by the presence of pathologic fluid accumulation in at least two fetal sites, including the serous cavities (pericardial, pleural, and peritoneal), with associated skin edema. Its diagnosis is established by first ruling out maternal red-cell alloimmunization....
- N Engl J Med 2020; 383:1746-1756
Nonimmune hydrops fetalis has marked genetic heterogeneity. Accurate diagnosis enables focused prenatal management and early, directed neonatal care. This study involving 127 affected fetuses provides a diagnostic yield from sequencing the fetal exome.
- N Engl J Med 2020; 383:1107-1116
Little is known about the genetic causes of stillbirth. In this study, investigators used exome sequencing analysis to identify a genetic cause in a relatively small percentage of cases and to provide some interesting clues as to where to look for more genes that, when mutated, cause stillbirth. The article...
- N Engl J Med 2020; 383:1182-1183
Stillbirth, or fetal loss after 20 weeks of gestation, remains a major public health challenge that occurs in approximately 6 per 1000 pregnancies in the United States.1 Unfortunately, many of these losses remain unexplained, even after standard postmortem evaluation.2 The use of karyotype and chromosomal microarray...
- N Engl J Med 2020; 382:2472-2474
Balanced chromosomal rearrangements are associated with infertility and recurrent miscarriage but are difficult to detect. In this study, long-read DNA sequencing identified BCRs in 11 of 27 euploid embryos from 11 couples; transfer of euploid embryos has resulted in 6 euploid live births.
- N Engl J Med 2020; 382:1855-1857
Mitochondrial replacement is provided in England and Wales to women with mitochondrial disease seeking to have an unaffected child. However, the use of this technique for the treatment of a different condition — infertility — is unproven and yet is being offered at fertility clinics worldwide.
- N Engl J Med 2019; 381:1681-1683
Placental health is critical to fetal health, but modeling the placenta is difficult. A recent study shows that both human and porcine stem-cell cultures can, in fact, be efficiently differentiated into trophoblasts and also converted into trophoblast stem cells.
- N Engl J Med 2019; 381:1678-1680
Kim et al., in a report now published in the Journal, describe the discovery, development, and administration of an antisense oligonucleotide (ASO) therapy specifically designed for a single patient with CLN7 neuronal ceroid lipofuscinosis (a form of Batten’s disease), a fatal genetic neurodegenerative disorder.1 In this...
- N Engl J Med 2019; 381:1477-1479
Subcutaneous allogeneic grafts derived from cells cultured from the cryopreserved testis tissue of prepubertal rhesus monkeys can differentiate and produce spermatids and spermatozoa, a finding with implications for the reproductive potential of prepubertal boys rendered sterile by medical treatment.
- N Engl J Med 2019; 380:1971-1972
The risk of having a child affected with mitochondrial disease can be predicted, albeit within the limits of substantial variability, according to the proportion of mutant mitochondrial genomes carried by the mother.
- N Engl J Med 2019; 380:1080-1082
Soluble Flt-1 (sFlt-1) is a known mediator of vascular events that cause preeclampsia. A recent study showed that suppressing the synthesis of sFlt-1 in mouse and baboon models of preeclampsia resulted in normalization of blood pressure, although the birth weights of baboon infants tended to be low.