Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.
Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in the uterus (womb). The procedure is a standard part of prenatal care in many countries, as it can provide a variety of information about the health of the mother, the timing and progress of the pregnancy, and the health and development of the embryo or fetus.
Prenatal testing is a tool that can be used to detect some of these abnormalities at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
In obstetrics, gestational age is a measure of the age of a pregnancy taken from the beginning of the woman's last menstrual period (LMP), or the corresponding age of the gestation as estimated by a more accurate method, if available. Such methods include adding 14 days to a known duration since fertilization, or by obstetric ultrasonography. The popularity of using this measure of pregnancy is largely due to convenience: menstruation is usually noticed, while there is generally no convenient way to discern when fertilization or implantation occurred.
Frank A. Chervenak, MD currently serves as Chair of Obstetrics and Gynecology, Lenox Hill Hospital; Chair of Obstetrics and Gynecology and Associate Dean of International Medicine, Zucker School of Medicine at Hofstra/Northwell.
Fetal surgery also known as antenatal surgery, prenatal surgery, is a growing branch of maternal-fetal medicine that covers any of a broad range of surgical techniques that are used to treat congenital abnormalities in fetuses who are still in the pregnant uterus. There are three main types: open fetal surgery, which involves completely opening the uterus to operate on the fetus; minimally invasive fetoscopic surgery, which uses small incisions and is guided by fetoscopy and sonography; and percutaneous fetal therapy, which involves placing a catheter under continuous ultrasound guidance.
Ventriculomegaly is a brain condition that mainly occurs in the fetus when the lateral ventricles become dilated. The most common definition uses a width of the atrium of the lateral ventricle of greater than 10 mm. This occurs in around 1% of pregnancies. When this measurement is between 10 and 15 mm, the ventriculomegaly may be described as mild to moderate. When the measurement is greater than 15mm, the ventriculomegaly may be classified as more severe.
Kyprianos "Kypros" Nicolaides is a Greek Cypriot physician of British citizenship, Professor of Fetal Medicine at King's College Hospital, London. He is one of the pioneers of fetal medicine and his discoveries have revolutionised the field. He was elected to the US National Academy of Medicine in 2020 for 'improving the care of pregnant women worldwide with pioneering rigorous and creative approaches, and making seminal contributions to prenatal diagnosis and every major obstetrical disorder'. This is considered to be one of the highest honours in the fields of health and medicine and recognises individuals who have demonstrated outstanding professional achievement and commitment to service.
Asim Kurjak is the President of International Academy of Perinatal Medicine and director of Ian Donald Inter-University School of Medical Ultrasound. He is a regular fellow of World Academy of Art and Science, European Academy of Sciences and Art, International Academy for Human Reproduction, Italian Academy of Science and Art of Reggio Puglia, Academy of Medical Sciences of Catalonia; honorary member of American Institute of Ultrasound in Medicine and Biology; regular member of Russian Academy of Science and Art.
Stuart Campbell DSc FRCPEd FRCOG FACOG, was born in Glasgow, Scotland, and graduated from the medical school of Glasgow University. During his training he worked with Ian Donald, who had published some of the first papers on the use of ultrasound in obstetrics.
Maternal–fetal medicine (MFM), also known as perinatology, is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy.
Roberto Caldeyro-Barcia was a Uruguayan doctor who pioneered the field of maternal-fetal medicine, or perinatology. His research with Dr. Hermógenes Alvarez created Montevideo units, a measure of uterine performance during labor. He was a founding editor of the Journal of Perinatal Medicine, a widely published author, a lecturer, and as of 2010 the only Uruguayan to be nominated for a Nobel Prize.
Velamentous cord insertion is a complication of pregnancy where the umbilical cord is inserted in the fetal membranes. It is a major cause of antepartum hemorrhage that leads to loss of fetal blood and associated with high perinatal mortality. In normal pregnancies, the umbilical cord inserts into the middle of the placental mass and is completely encased by the amniotic sac. The vessels are hence normally protected by Wharton's jelly, which prevents rupture during pregnancy and labor. In velamentous cord insertion, the vessels of the umbilical cord are improperly inserted in the chorioamniotic membrane, and hence the vessels traverse between the amnion and the chorion towards the placenta. Without Wharton's jelly protecting the vessels, the exposed vessels are susceptible to compression and rupture.
Nebojsa V. Radunovic is a university professor of obstetrics and gynecology at University of Belgrade's School of Medicine* Reference 1, Chair of Human reproduction department at Institute for Obstetrics and Gynecology, Clinical Center of Serbia and a corresponding member of the Serbian Academy of Sciences and Arts. He was born in 1954 in Kosovska Mitrovica, Kosovo, then SFRY.
Diana W. Bianchi is the director of the U.S. National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development, a post often called “the nation’s pediatrician.” She is a medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi had previously been the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and founder and executive director of the Mother Infant Research Institute at Tufts Medical Center. She also has served as Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.
Karin J. Blakemore is a leading medical geneticist and works in gynecology and obstetrics, human genetics, and maternal and fetal medicine. Dr. Blakemore's major contribution to medicine stems from her research as a member of a team that aimed to fight genetic disorders through the in utero transplantation of donor cells using a mouse as an animal model. Through this initial research in regards to first trimester prenatal diagnosis, Blakemore initiated the beginning of research on in utero bone marrow transplantation for genetic disorders of the fetus.
The anomaly scan, also sometimes called the anatomy scan, 20-week ultrasound, or level 2 ultrasound, evaluates anatomic structures of the fetus, placenta, and maternal pelvic organs. This scan is an important and common component of routine prenatal care. The function of the ultrasound is to measure the fetus so that growth abnormalities can be recognized quickly later in pregnancy, to assess for congenital malformations and multiple pregnancies, and to plan method of delivery.
Charles Richard Whitfield FRCOG, FRCP(G) was a Northern Irish obstetrician and gynaecologist who was a pioneer of maternal-fetal (perinatal) medicine. His primary interest was in fetal medicine, a branch of obstetrics and gynaecology that focuses on the assessment of the development, growth and health of the baby in the womb. He was also an early proponent of subspecialisation within the fields of obstetrics and gynaecology, a practice that is common today.
Beryl Rice Benacerraf was an American radiologist and professor of obstetrics, gynecology and reproductive biology and radiology at Harvard Medical School. She was a pioneer in the use of prenatal ultrasound to diagnose fetal abnormalities, including Down syndrome. In 2021, she was recognized as a "Giant in Obstetrics and Gynecology" by the American Journal of Obstetrics & Gynecology.
Eliezer Shalev is an Israeli gynecologist and current President of Tel Hai Academic College. He also serves as Chairman of the Israeli Ministry of Health National Council for Gynecology, Neonatology and Genetics.
