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Spontaneous abortion

MedGen UID:
39
Concept ID:
C0000786
Finding; Pathologic Function
Synonyms: Miscarriage
SNOMED CT: Vaginal expulsion of product of conception (17369002); Vaginal expulsion of fetus (17369002); Spontaneous abortion (17369002); Miscarriage (17369002); Vaginal expulsion of foetus (17369002)
 
HPO: HP:0005268

Definition

A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage. Factors that may contribute to miscarriage include. -A genetic problem with the fetus. This is the most common cause in the first trimester. -Problems with the uterus or cervix. These contribute in the second trimester. -Polycystic ovary syndrome. Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately. Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

Conditions with this feature

Hereditary factor I deficiency disease
MedGen UID:
9230
Concept ID:
C0019250
Disease or Syndrome
An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.
Hand foot uterus syndrome
MedGen UID:
331103
Concept ID:
C1841679
Disease or Syndrome
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include: abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females; hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.
X inactivation, familial skewed, 1
MedGen UID:
338394
Concept ID:
C1848138
Disease or Syndrome
In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation. Genetic Heterogeneity of Skewed X Inactivation See also SXI2 (300179) for a locus that maps to chromosome Xq25-q26.
FRAGILE SITE 16q22
MedGen UID:
342637
Concept ID:
C1850984
Disease or Syndrome
Molybdenum cofactor deficiency, complementation group C
MedGen UID:
340761
Concept ID:
C1854990
Disease or Syndrome
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood.Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).
FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)
MedGen UID:
855519
Concept ID:
C3890175
Finding
Afibrinogenemia, congenital
MedGen UID:
434329
Concept ID:
CN071205
Disease or Syndrome
Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009). Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).

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