Nonimmune Hydrops Fetalis/ 414 Twin Reversed Arterial Perfusion Sacrococcygeal Teratoma/ 426 Sequence/ 409
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Other Anomalies Pregnancies/ 403 Amniotic Band Syndrome/ 411 Conjoined Twins/ 405 Nonimmune Hydrops Fetalis/ 414 Twin Reversed Arterial Perfusion Sacrococcygeal Teratoma/ 426 Sequence/ 409 Twin Pregnancies Definition Embryology-Pathology Monozygotic (MZ) or "identical" twins derive from a DZ twinning is determined at ovulation, as it requires single fertilized ovum. They are of the same sex and the availability of two ova. MZ twinning occurs after have identical genotypes. Dizygotic (DZ) or "fraternal" fertilization and is confined to the earliest stages of twins arise from two different ova fertilized by two embryogenesis, because the embryo is incapable of different sperms. Their genetic similarity is the same as fission once it is formed. Figure 12-1 illustrates the with siblings. timing of monozygotic twinning events. If the separation occurs at the two-cell stage (approximately 60 hours after fertilization), the twins will be dichorionic Incidence diamniotic. If it occurs between the 3d and 8th days There is considerable geographic variation in the after fertilization, the twins will be monochorionic incidence of twin births ranging from 1:25 in the Yoruba diamniotic. Separation between the 8th and 10th days tribe in Nigeria to 1:150 in Japan. The incidence in the results in monochorionic monoamniotic twins. United States is 1:88.2 This difference is attributable to Conjoined twins constitute the last type of event in the changes in the rate of DZ twinning, as the MZ twinning spectrum of monozygotic twinning.2 rate remains stable (0.35 to 0.45 per 100 births) throughout different populations. Factors that alter the Determination of Twin Zygocity rate of DZ twinning include race, maternal age, use of Determination of zygocity is important. Zygocity ovulation-inducing agents, and a positive family history. information will be helpful later in life if one twin Twins are more common in blacks than in whites. The develops a disease such as diabetes or requires a incidence of twinning increases with maternal age up to transplant. Zygocity assessment, therefore, should be the age of 35, and then decreases.1 The use of attempted at birth. A simple approach consists of first clomiphene citrate is associated with a multiple looking at the sex of the twins, because discordant sex pregnancy rate of 5 percent, almost all of which are (35 percent of twins) indicates dizygocity. If the sex is twins.9 Pergonal therapy is associated with a twinning the same, information should be obtained from rate of 30 percent, of which triplets or higher microscopic placental examination. The critical area for conceptional rates account for 5 percent.9 The tendency study is a section of the dividing membranes at the for multiple ovulation seems to be an inherited trait placental insertion, also known as the T-zone. Twenty expressed only in females. Therefore, the recurrence percent of all twins will have a monochorionic placenta, risk for twinning in a sibship is constant for MZ twins which is always a sign of monozygocity. (Sixty-five (0.35 to 0.4 per 1000 births), while it rises to three times percent of MZ twins have monochorionic placentation.) that of the normal population for DZ twins. 10 Among For the remaining 45 percent, i.e., those of the same sex white North Americans, 35 percent of all twins are unue- and without a monochorionic placenta, genetic studies sexed DZ, 35 percent are like-sexed DZ, and 30 percent including are MZ. 403 404 OTHER ANOMALIES Figure 12-1. The timing of the monozygotic twinning process. On the horizontal axis are days after fertilization. The types of placenta expected from embryonic events are: Di Di, diamniotic dichorionic; Di Mo, diamniotic monochorionic; MO MO, monoamniotic monochorionic. (Re- produced with permission from Benirschke, Kim: N Engl J Med 288:1276, 1973.) blood typing and chromosomal marking will be required twins. Some genotypes may also be expressed to determine zygocity. Molecular biology studies may differently in MZ twins. While phenotypic concordance help in this assessment. is the rule for MZ twins with trisomy 21 or Klinefelter's syndrome, MZ twins with gonadal dysgenesis are often Associated Anomalies discordant.4,7 The prevalence of congenital anomalies in twin pregnancies is higher than in singleton pregnancies. All twins are at risk for constraint deformities as a REFERENCES consequence of intrauterine crowding. The excess in 1. Benirschke K: Multiple gestation: Incidence, etiology, and structural congenital anomalies observed in multiple inheritance. In: Creasy RK, Resnik R (eds): Maternal-Fetal pregnancies is attributable to MZ twins.3,6,8 Congenital Medicine: Principles and Practice. Philadelphia, Saunders, defects in multiple pregnancies can be classified into 1984, pp 511-526. 2. Benirschke K: The pathophysiology of the twinning three groups: (1) anomalies unique to multiple process. In: Iffy L, Kaminetzv HA (eds): Principles and conception, such as conjoined twins and twin reversed Practice of Obstetrics and Gynecology. New York, Wiley, arterial perfusion (TRAP) sequence; (2) anomalies not 1981, pp 1165-1170. unique to multiple conception, but that occur more often 3. Hay S, Wehrung DA: Congenital malformations in twins. in twins, such as hydrocephalus, congenital heart disease, Am J Hum Genet 22:662, 1970. single umbilical artery, and neural tube defects; and (3) 4. Karp L, Bryant JI, Tagatz G, et al.: The occurrence of anomalies not unique to twins, but observed with gonadal dysgenesis in association with monozygotic increased frequency because of mechanical or vascular twinning. J Med Genet 12:70, 1975. factors associated with twinning, such as talipes, skull 5. Little J, Bryan E: Congenital anomalies in twins. Semin Perinatol 10:50, 1986. asymmetry, and congenital dislocation of the hip. The 6. Myrianthopoulos NC: Congenital malformations in rate of concordance for congenital anomalies in twins 5 Epidemiologic survey. Birth Defects 11(8):I, 1975. varies from 3.6 percent to 18.8 percent. These figures 7. Pedersen IK, Philip J, Sele V, et al.: Monozygotic twins are influenced by zygocity and the specific anomaly. For with dissimilar phenotypes and chromosome complements. example, the incidence of concordance for facial clefting Acta Obstet Gynecol Scand 59:459, 1980. is 40 percent in MZ twins and 8 percent in DZ twins. 8. Schinzel AA, Smith DW, Miller JR: Monozygotic twinning Discrepancy for chromosomal anomalies is the rule and structural defects. J Pediatr 95:921, 1979. for DZ twins and surprisingly, also occasionally for MZ 9. Speroff L, Glass RH, Kase NG (eds): Clinical Gynecologic twins.5 Heterokaryotypes refer to the discrepant Endocrinology and Infertility. Baltimore, Williams & Wilkins, 1983, pp 531-538. chromosomal constitution observed in some MZ 10. Thompson JS, Thompson MW: Genetics in Medicine. Philadelphia, Saunders, 1986, pp 273-282. CONJOINED TWINS 405 Conjoined Twins Incidence The most frequent abnormality is a conjoined heart, The incidence is from 1 in 30,000 to 1 in 100,000 live with two ventricles and a varying number of atria (1 to 3,4,8 births. Seventy-five percent of conjoined twins are 4), although a number of permutations have been females. reported. Ventricular septal defects are found in 13,14 virtually all patients in addition to other deformities. Etiology Unknown. Monozygotic twins arise from a single Omphalopagus-Xiphopagus. A review of the literature blastocyst that undergoes duplication between the 1st indicates that the liver is conjoined in 81 percent of and 10th day after ovulation. Conjoined twins are patients, the sternal cartilage in 26 percent, the commonly regarded as an abnormality of the process diaphragm in 17 percent, and the genitourinary tract in 3 of monozygotic twinning, because of an incomplete percent.6 The anomalies not obviously linked to the division of the embryonic cell mass at one pole or at a abnormal division process of the embryonic mass point between the poles. Conjoined twins are a include malformations of the abdominal wall (usually sporadic event that tends not to recur. omphalocele) in at least one of the twins in 33 percent of cases, and congenital heart disease (most frequently Pathology ventricular septal defects and tetralogy of Fallot) in at A classification of conjoined twins is provided in least one of the twins in 25 percent of cases. Only one Table 12-1. The most frequent types of conjoined of nine sets of twins had concordance of the cardiac twins are thoracoomphalopagus (28 percent), defect in both twins.6 thoracopagus (18 percent), omphalopagus (10 percent), incomplete duplication (10 percent), and Pygopagus. Pygopagus accounts for 20 percent of all 3 craniopagus (6 percent). onjoined twins. They are joined at the buttocks and Anatomic abnormalities are the rule in conjoined lower spine, and face away from each other. They may twins. In most cases, it is possible to assume that they share part of the sacral spinal canal, may have a derive directly as a consequence of the presumed common rectum and anus, and the external genitalia are abnormal division of the embryonic mass. In other often fused. cases, the origin of the malformation cannot be explained on a purely mechanical basis (e.g., facial clefting), and it suggests a more diffuse disturbance of morphogenesis. Figure 12-2 illustrates the different varieties of conjoined twins. Craniopagus. Craniopagus may be classified, according to the area of junction, into frontal, parietal, temporal, or occipital varieties. Parietal craniopagus is twice as common as all other types combined. For surgical and prognostical purposes, craniopagus may also be subdivided into partial and complete types. In the former, brains are separated by bone or dura, and each brain has separate leptomeninges. In total craniopagus, brains are connected. Cerebral connection is most frequent in temporoparietal varieties. Successful separation depends upon the degree of connection between the brains and the presence of a superior sagittal sinus for each brain, as this is critical for adequate venous drainage.