Introduction
Rui Diogo, Drew M. Noden, Christopher M. Smith, Julia Molnar, Julia C. Boughner, Claudia Barrocas, Joana Bruno in Understanding Human Anatomy and Pathology, 2018
Developmental abnormalities can result from disruptions of cell proliferation, cell movement, cell differentiation, cell survival, or morphogenesis. Abnormalities arising during prenatal stages of development are commonly called congenital abnormalities or birth defects. Some abnormalities may not show clinical signs until the affected systems become functional (e.g., sensory systems, locomotion, reproduction) or stressed (metabolic, endocrine), or they may compromise cell functions in ways that are not recognized until adulthood; for example, increasing risks of cancer or heart disease. Clinically relevant abnormalities are present in 3% of live births, or ~320 babies in the United States every day, and an equal number are subsequently detected prior to the age of one year (data available from the Center for Disease Control website). About half of all neonatal deaths are attributable to identified developmental problems, ranging from gross structural abnormalities to those that are more subtle, such as low birth weight and placental insufficiency. Defects frequently are part of a syndrome, a set of abnormalities that often appear together, and are assumed to result from the same genetic variation or environmental insult. Birth defects contrast with anatomical variations, which are seen in the karyotypically/genetically “normal” population: You will surely see such variations in the human cadavers you dissect in your gross anatomy course.
Research Methods
Deborah Fish Ragin in Health Psychology, 2017
In some instances, the infant mortality statistics also provide information on the health of other members in the community. For example, the infant mortality data also serve as basic indicators of the health of a community or region. Consider this fact: In 2014, the three leading causes of death for infants in the United States were congenital anomalies (birth defects), short gestations (disorders related to premature births), and maternal complications during pregnancy (Centers for Disease Control & Prevention, 2016). But researchers note that two principal causes of birth defects are a lack of prenatal care for the mother and the mother’s use of substances (cigarettes, alcohol, or illegal drugs) while pregnant. In other words, the two main causes of infant deaths cited here are linked to maternal health factors. Thus, infant death rates may be indicators of maternal health as well as the overall health of the infant (Centers for Disease Control, 1999; Ebrahim & Atrash, 2006).
Counseling Prenatal Diagnosis Patients
Regina Furlong Lind, Debra Honig Bachman in Fundamentals of Perinatal Social Work, 2012
Prenatal diagnosis of fetal abnormalities has become more common and more precise over the past 15 years. The rapid development of new molecular genetic techniques has led to the identification of genes for many inherited disorders. This means that serious or progressively lethal medical conditions such as hemophilia, muscular dystrophy, cystic fibrosis, Tay-Sachs, sickle cell disease and Fragile X syndrome can be identified or ruled out in a fetus carried by a woman with a family history of these problems. Even women with low-risk pregnancies are now candidates for screening with maternal serum alpha-fetoprotein for anatomic defects such as spina bifida or chromosomal abnormalities such as Down syndrome. As ultrasound technology has improved and become widely available, the early diagnosis of structural birth defects has become more common.
Alcohol and tobacco use among preconception women in India
Published in Journal of Substance Use, 2023
Rajeshwari A. Biradar, Shiva S. Halli
Alcohol and tobacco use in pregnant women have been linked to adverse health outcomes for mother and baby during pregnancy (Azuma & Chasnoff, 1993; Handler et al., 1991; Patel et al., 2002). Alcohol and tobacco use has also been identified as a means for pregnant women to “cope with daily life” in an adverse environment where poverty and other social hazards exist (Gorski, 2008; Patel et al., 2002). Alcohol exposure during pregnancy has been identified as one of the main avoidable causes of birth defects and developmental disorders in offspring (Smith et al., 2015). A frequent form of alcohol and tobacco use has also been identified as associated with low weight gain during pregnancy (Davis, et al., 2011), diminished fetal growth (Harrison & Sidebottom, 2009) and premature deliveries (Smith et al., 2015). The Center for Disease Control and Prevention (CDC) reports that three out of four women consume alcoholic beverages while trying to get pregnant (Centers for Disease Control and Prevention, 2016).
Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis
Published in Fetal and Pediatric Pathology, 2021
Abdolhamid Amooee, Seyed Alireza Dastgheib, Seyed Mohammadreza Niktabar, Mahmood Noorishadkam, Mohamad Hosein Lookzadeh, Seyed Reza Mirjalili, Naeimeh Heiranizadeh, Hossein Neamatzadeh
Craniofacial anomalies, particularly cleft lip/palate (CL/P), are among the most common birth defects. They affect approximately 1 in 700 births, a frequency which may differ according to the geographical region and socio-economic level. NSCL ± P is a complex disorder that does not have clear Mendelian patterns of inheritance [1,2]. However, a high frequency of familial clustering and higher concordance rates in monozygotic twin implicate genetic factors in NSCL ± P development. Genetic mutations have been estimated to cause approximately 20% of all NSCL ± P cases [3,4]. In the last decade, exhaustive efforts have been devoted to unraveling the genetic underpinning of NSCL ± P, and hundreds of loci and variants have been hypothesized to be involved in the pathogenesis of the disease. Among them, genetic variations in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and methionine synthase reductase (MTRR) genes have been assessed as potential risk factor in development of congenital malformations [5,6].
Pregnancy outcomes in women reporting exposure to ofloxacin in early pregnancy
Published in Journal of Obstetrics and Gynaecology, 2018
You Jung Shin, June Seek Choi, Jin Hoon Chung, Jung Yeol Han, Hyun Kyong Ahn, Hyun Mee Ryu
The number of spontaneous abortions in the exposed and the control groups was compared. The foetal humerus and femur lengths were measured in the second and third trimesters via serial ultrasound scans, and each long bone length with known outcome was compared separately between the trimesters and foetal gender. At the time of delivery, pregnant women were admitted to the hospital, and the newborns were examined at birth for neonatal outcomes, including for major birth defects. A neonatologist clinically examined the neonates to detect any major birth defects. Major birth defects were defined as structural changes that have significant medical, social or cosmetic consequences for the affected individual, and typically require medical intervention depending on the lists in the National Birth Defects Prevention Network (NBDPN 2009a) annual report appendix.
Related Knowledge Centers
- Childbirth
- Chromosome Abnormality
- Degenerative Disease
- Developmental Disability
- Disability
- Intellectual Disability
- Metabolic Disorder
- Physical Disability
- Functional Disorder
- Genetic Disorder