Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options. A patient may decline any or all screening. When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. The patient should be encouraged to inform his or her relatives of the risk and the availability of carrier screening. If an individual is found to be a carrier for a specific condition, the patient's reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. What follows is a detailed discussion of some of the more common genetic conditions for which carrier screening is recommended in at least some segments of the population.
Perinatal palliative care refers to a coordinated care strategy that comprises options for obstetric and newborn care that include a focus on maximizing quality of life and comfort for newborns with a variety of conditions considered to be life-limiting in early infancy. With a dual focus on ameliorating suffering and honoring patient values, perinatal palliative care can be provided concurrently with life-prolonging treatment. The focus of this document, however, involves the provision of exclusively palliative care without intent to prolong life in the context of a life-limiting condition, otherwise known as perinatal palliative comfort care. Once a life-limiting diagnosis is suspected antenatally, the tenets of informed consent require that the pregnant patient be given information of sufficient depth and breadth to make an informed, voluntary choice for her care. Health care providers are encouraged to model effective, compassionate communication that respects patient cultural beliefs and values and to promote shared decision making with patients. Perinatal palliative comfort care is one of several options along a spectrum of care, which includes pregnancy termination (abortion) and full neonatal resuscitation and treatment, that should be presented to pregnant patients faced with pregnancies complicated by life-limiting fetal conditions. If a patient opts to pursue perinatal palliative comfort care, a multidisciplinary team should be identified with the infrastructure and support to administer this care. The perinatal palliative care team should prepare families for the possibility that there may be differences of opinion between family members before and after the delivery of the infant, and that there may be differences between parents and the neonatal care providers about appropriate postnatal therapies, especially if the postnatal diagnosis and prognosis differ substantially from antenatal predictions. Procedures for resolving such differences should be discussed with families ahead of time.
For many patients with endometriosis, laparoscopic surgery is the most effective treatment to alleviate severe chronic pelvic pain and improve quality of life. Because endometriosis is common among individuals with infertility, surgery is often considered alongside fertility evaluation and treatment to manage symptoms, identify disease pathology, and restore pelvic anatomy. In patients who desire pregnancy, the decision of whether and when to pursue surgery should be guided by clear medical indications and shared decision making between the patient and their obstetrician-gynecologist. In recent months, however, religious and political groups have sought to reframe this medical decision as an ideologic and moral one, advocating for endometriosis surgery in nearly all patients with infertility and claiming that this can eliminate the need for assisted reproductive technologies. This framework, known as restorative reproductive medicine (RRM), aligns with efforts to promote the "personhood" of fertilized eggs, restrict access to in in vitro fertilization (IVF), and advance endometriosis surgery and lifestyle modifications as "root-cause treatment leading to natural fertility." Recent editorials and issue briefs in the obstetrics and gynecology literature have discussed the serious ethical, medical, and policy implications of RRM, yet there remains an urgent need to address specifically the unfounded claims about endometriosis surgery and its purported advantages over assisted reproductive technology. This article examines the social context of this controversy and reviews the current evidence regarding the indications, benefits, and limitations of endometriosis surgery in the management of infertility. In contrast to RRM's assertions, no evidence supports the adoption of endometriosis surgery as a replacement for IVF or as a primary treatment for infertility. Rather, the role of surgery in fertility care is highly nuanced and depends on each patient's clinical presentation, reproductive goals, and personal priorities.
Infertility affects 1 in 6 people globally (and up to a third of physicians) and is recognized by the World Health Organization and the American Medical Association as a disease. Since 1978, the development of assisted reproductive technology (ART), which is defined as fertility treatments in which gametes or embryos are handled in vitro, has made it possible to overcome otherwise insurmountable barriers to conception and has led to the birth of more than 10 million children worldwide.
Add-Ons and Adjuncts · Preimplantation Genetic Testing
Preimplantation genetic testing for polygenic disorders (PGT-P) has been commercially available since 2019. PGT-P makes use of polygenic risk scores for conditions which are multifactorial and are significantly influenced by environmental and lifestyle factors. If current predictions are accurate, then absolute risk reductions range from about 0.02% to 10.1%, meaning that between 10 and 5,000 in vitro fertilization patients would need to be tested with PGT-P to prevent one offspring from becoming affected in the future, depending on the condition and the number of embryos available. Survey and interview data reveal that patients and the public have largely favorable views regarding the use of PGT-P for disease prevention; however, clinicians and professional organizations have many reservations. The use of PGT-P raises multiple social and ethical concerns including the need for adequate counseling, the setting of realistic expectations, the application of distributive justice, the impact of environmental and social determinants of health, and the potential exacerbation of health inequities. Clinicians expressed significant concerns relating to the cost of PGT-P, the potential time-consuming counseling for reproductive endocrinologists and genetic counselors, the intentional creation of supernumerary embryos, and patients' unrealistic expectations regarding "healthiest disease-free" embryos. Furthermore, current evidence lacks long-term outcome data and generalizability. Prior to offering PGT-P to patients, additional clinical validation studies are needed. Also, ethical and social considerations raised by PGT-P should be carefully delineated. Systemic practices to increase equitable access to unbiased genetic counseling and reproductive services would be desirable prior to the ethical implementation of PGT-P.