42 Years Old Pregnant With Twins
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Durante el embarazo se requiere monitorización estricta por equipo multidisciplinario que incluya al menos un cardiólogo, endocrinólogo y un especialista en medicina materno-fetal 8.
Previa autorización y consentimiento informado materno, para su publicación en forma anónima, se reporta un caso de un embarazo con síndrome de Turner. Mujer de 42 años de edad, con antecedentes de síndrome de Turner diagnosticado por cariograma a los 14 añosdiabetes mellitus e hipotiroidismo en tratamiento con metformina y levotiroxina.
En un segundo intento de fertilización in vitro por ovodonación, se logra embarazo gemelar bicorial biamniótico. Ambos gemelos permanecieron hospitalizados en unidad de neonatología respectivamente durante 60 y 92 días, siendo dados de alta en buenas condiciones. Madre evoluciona con regresión de su síndrome hipertensivo y es dada de alta sin otras complicaciones.
El estudio histológico de los anexos ovulares, confirmó corionicidad y se describió inserción velamentosa del cordón en el gemelo 2. En el caso presentado, se observa que esta mujer tiene una edad de 42 años, diabética e hipotiroidea y logra un embarazo gemelar bicorial biamniótico como consecuencia de la fertilización in vitro, condicionando un alto riesgo obstétrico materno y perinatal para su gestación.
Al inicio del tercer trimestre, se presentó una preeclampsia con síndrome de HELLP que obligó a su interrupción. Podemos en este caso afirmar que la factibilidad de un embarazo sin graves complicaciones era esperable, dado que su síndrome de Turner, no presentaba malformaciones cardiovasculares ni renales y solo patologías adecuadamente controladas previamente diabetes e hipotiroidismo.
En el año en Liverpool, una embarazada con síndrome de Turner de 32 años con buen estudio prenatal, sin comorbilidades, presentó un parto vaginal de término con extracción con ventosa de recién nacido de 3. El feto evolucionó con restricción intrauterina del crecimiento desde la semana Debido a 42 years old pregnant with twins expuesto, es necesario realizar un completo tamizaje a mujeres portadoras de Turner, con el objeto de evaluar las posibles complicaciones que puedan presentarse y tomar una decisión sobre la eventual contraindicación de un embarazo, especialmente en relación al riesgo de disección aórtica.
En caso de definir un embarazo es necesario manejo multidisciplinario. El síndrome de Turner se asocia a infertilidad no obstante actualmente el embarazo en este tipo de mujeres es posible a través de la ovodonación y fertilización in vitro. Se recomienda por lo tanto un estudio y seguimiento multidisciplinario estricto, tanto en la etapa pregestacional como durante el embarazo. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril ; 95 42 years old pregnant with twins : Cardiovascular phenotype in Turner syndrome—integrating cardiology, genetics, and endocrinology.
Endocr Rev ; 33 5 : Pregnancy without ovarian function. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey.
Fertil Steril ; 80 3 : Hum Reprod ; 21 3 : Obstetric outcome in donor oocyte pregnancies: a matched-pair analysis. Reprod Biol Endocrinol ; doi: Materno-fetal cardiovascular complications in turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome.
J Clin Endocrinol Metab ; 96 2 : E Karnis MF. Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years. No mutations were found in the retinoblastoma gene [Marcus et al.
Both concordance and discordance for common neoplasms breast, colon, prostate, lung are known in MZ twins. Concordance for neoplasia is one of the strongest arguments for testing when zygosity is in doubt see below. Reports continue to appear concerning discordance for disruptions, for example, Goldenhar syndrome [Verona et al. It has been suggested that discordance for several types of congenital brain anomalies focal cortical dysgenesis, periventricular nodular heterotopias might also in some cases be caused by vascular instability in MC twins [Sisodiya et al.
Same intrauterine environment, MZ genome, discordance for congenital heart block. In two remarkable pairs [Cooley et al. Masked discordance. There are reports of MZ twins discordant for thyroid dysgenesis.
In fact, there are no known cases in which MZ twins are concordant for thyroid dysgenesis. The dysgenetic twins have later onset neonatal hypothyroidism, with the potential for lasting effects.
Transfusion of bone marrow hematopoietic precursor cells has been implicated in childhood acute lymphoblastic 42 years old pregnant with twins in MZ twins [Maia et al. However, retrospective analysis of newborn bloodspots reveals the presence of common leukemia fusion genes e. Selective termination is difficult, because definitive identification of the cord of the affected twin is required [Middeldorp et al.
MA twins show both concordance and discordance for major regional malformations. In a report of 12 pairs of MA twins diagnosed in the first trimester, 4 pairs were conjoined and 4 pairs were discordant for major malformation: kyphoscoliosis, anencephaly, body stalk defect, diaphragmatic hernia [Sebire et al. Of the remaining four structurally normal pairs, three fetuses died of cord entanglement. Phenotypic discordance in single gene disorders.
MZ twins with neurofibromatosis II have variable expression in terms of onset and location of tumors e. Similar considerations apply to MZ twins with tuberous sclerosis [Humphrey et al. Miscellaneous disorders. Concordance for Crohn disease was Taking advantage of 11 MZ pairs discordant for rheumatoid arthritis RAcDNA derived from lymphoblastoid B cell lines was hybridized with a 20, element microarray chip [Haas et al.
The products of these genes, previously uncharacterized in RA, were expressed in RA synovial tissues. These examples show the potential for involving discordant MZ twins in the investigation of complex traits [Martin et al. Not all of these explanations have been satisfactory, and it remains true that, for the reasons discussed above, most MZ twins are best described as being too similar to be DZ.
Four types of intermediate twinning have been described. The majority are chimeric in blood and involve division of products of oogenesis or of the early zygote such as to compromise the volume of oocytic cytoplasm generally regarded as optimal for normal early development; the chromosomal status of binovular ovarian follicles is not known.
Alternatively, fusion of 42 years old pregnant with twins results in MC twinning although the twins are DZ. All are at least trigametic, always with different paternal haploid contributions, 42 years old pregnant with twins sometimes with different maternal contributions also i. In terms of heterozygous maternal alleles, the first polar body is the completely reciprocal opposite of the secondary oocyte and ovum, because of chromosomal segregation, with or without recombination.
The first polar body contains 23 whole chromosomes 46 chromatids and is, in effect, diploid; any fertilization will result in a triploid twin fetus [Bieber et al. Normally, the polar body degenerates, but fertilization of the polar body can lead to a twin pregnancy. A pair reported by Bieber et al. In the case of second polar body fertilization, recombination would have resulted in reciprocal dissimilarity for heterozygous alleles in the recombined segments such that the maternal contributions to the two zygotes would not be identical.
However, the twins would probably have phenotypes intermediate between MZ and DZ, depending on the degree of dissimilarity 42 years old pregnant with twins the paternal genomic contributions. No such twin pairs have so far been described. Parthenogenetic activation and cleavage of the ovum would result in identical maternal genomic contribution if both parthenogenetic components are fertilized.
Dispermic fertilization followed by diploidization of the triploid zygote [Golubovsky, ] is another possible explanation for the twins described by Souter et al. Aggregation of the cells is followed by chimeric twinning.
MC dizygotic twin pairs with fusion of trophoblasts have been reported by several authors. These cases represent a particular type of chimerism, limited to blood and presumably placenta; but rather than the chimeric cell lines being incorporated into one body, the twinning process proceeded, with paradoxical MC placentation. The first such pair fully studied [Redline, ; Souter et al.
The twins were delivered at 36 weeks, a male weighing 2, g and a female weighing 2, g. External and internal genitalia were unambiguous. In situ hybridization of placental tissues for X and Y signals showed Y signals in solid placental tissues in the male zone and two X signals in the female zone of the placenta respectively.
Amniotic cells were not chimeric. Initial DNA studies were interpreted as MZ, because of the predominance of male cells in peripheral blood, but minor bands for female alleles were later discovered. DNA studies of skin fibroblasts showed pure dizygosity without evidence of chimerism. A similar twin pair was reported [Williams et al. The placenta was MC by ultrasound, confirmed by pathology.
The female had a velamentous cord insertion. Ovaries were subsequently found in bilateral inguinal hernias. Microsatellite marker studies of buccal swab cells showed clear dizygosity without chimerism.
FISH studies of buccal cells, skin 42 years old pregnant with twins and ovarian tissue likewise showed no chimerism. Chorionicity was unknown. Born at 32 weeks, the female weighed 1, g, and the males 2, and 1, g. There were no genital abnormalities. No DNA single locus studies were done on buccal cells or fibroblasts from the males, but their serological markers were identical.
It seems reasonable to assume that they were MZ because three embryos were implanted.
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Blood chimerism is best explained by monochorionicity of the MZ males and between the males and the female. Born at 33 weeks, one male twin weighed 2, g and had BWS glossomegaly, omphalocele, and hemihypertrophy and a 47,XYY peripheral blood karyotype.
Placentation was MC by pathology, but the status of anastomoses was not given. Dizygosity was confirmed by eight DNA single locus probes. There was no evidence of blood chimerism. All were MC by ultrasound, confirmed by pathology in three cases. One had anastomoses, and another pair originally triplets with selective reduction had some form of twin transfusion.
Blood chimerism was diagnosed by karyotype in four and by ABO blood groups in one. Two tested pairs were negative for chimerism in skin fibroblasts.
42 years old pregnant with twins, molecular studies showed dizygosity. There was cordocentesis blood chimerism in both twins. A pair of phenotypically normal MC ultrasound and pathology male twins, conceived by ovulation induction, were born at 34 weeks [Aoki et al.
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Blood chimerism was confirmed in five of nine DNA microsatellite loci. These same probes showed pure dizygosity in hair root cells.
Another IVF pregnancy with transfer of two embryos [Walker et al. There was blood chimerism. Mode of conception was not stated. The male twin was the donor. Appropriate but occluded anastomoses were seen on pathology examination following laser therapy. Presumably there was blood chimerism. The twins were conceived by ovulation induction, amniocentesis revealed 46,XX and 46,XY karyotypes.
All had blood chimerism but no chimerism of solid fetal tissues. All were truly tetragametic and DZ.
Amazingly her twins were born nearly two weeks apart. Monday, Feb 25th 3AM 44°F 6AM 41°F 5-Day Forecast . just 1lb 8oz, when she was 26 weeks pregnant and then Paisley (pictured left) 12 days later . in velvet slippers with pot leaf motifs on the toes The year-old made a statement. tion of multifetal pregnancies to twins improves outcome over nonreduced triplet gestations. Multifetal pregnancy reduction: evaluation of fetal growth in the remaining twins Twelve year experience of quadruplets at a single institution. for twins. Am J Obstet Gynecol ; 41 Min SJ, Luke B, Min L, et al.
It seems that MC DZ twins are rare. The 42 years old pregnant with twins implication of MC DZ twins is that they are expected to be immunologically tolerant for transplantation, at least to some degree, and possibly not symmetrically tolerant The practical implication of MC DZ twins is that they are expected to be immunologically tolerant for transplantation, at least to some degree, and possibly not symmetrically tolerant. Diagrammatic representation of possible events leading to trigametic blood chimeric DZ twin pair [Souter et al.
The ovum cleaves by parthenogenesis, with products that are genetically identical. Cells derived from the 46,XX and 46,XY zygotes aggregate during early proliferation, resulting in twins who differ in the ratio of constituent 46,XX and 46,XY cells. The high ratio of 46,XX to 46,XY cells in one twin results in true hermaphroditism. Figure is redrawn and modified from Figure 2 A [Souter et al.
A : DZ twins are considered always to be DC. However, the twin pair described by Souter et al. The MC placenta resulted in blood chimerism for the male and female cell lines, but there was no chimerism in fixed cells derived from the inner cell masses.
Figure reproduced with permission from Redline Souter et al. Williams et al. Yoon et al. Miura and Niikawa Shalev et al. Aoki et al. Walker et al. Quintero et al. Ginsberg et al. Whereas it is recognized that DZ twinning can 42 years old pregnant with twins familial, it is usually assumed that MZ twinning is not familial and that the etiology of the process is obscure. In reality, there are two factors that negate this view.
First, MZ twinning can be familial [Harvey et al. Inheritance appears autosomal dominant in many cases.
Some new examples are illustrated and discussed in the accompanying paper [Machin, ]. Genotyping in these families might uncover candidate genes for MZ twinning that have, for example, more obvious roles in cell adhesion. Second, the prevalence of spontaneous MZ twinning unlike DZ twinning appears to be constant by geography and ethnicity, at around 3.
MZ twinning is an intrinsic feature of human reproduction. Because of the many disadvantages of MC placentation [Barigye et al. It may merely be a phenocopy of DZ twinning, whose advantage would be a more rapid recovery per completed pregnancy following population loss through war, famine or disease.
After all, Mengele's interest in twins was spurred by the belief that the Lebensraum could best be quickly repopulated by increased twin birth [Nyiszli, ]. There is an excess of females among MZ triplets. These facts might merely indicate an increased male fetal vulnerability, or may indicate differences in the rate of early development in males and females, but they are quite striking among MZ twins.
For instance, it is valid to consider that MZ twin women have four breasts when calculating cancer risks [Peto and Mack, ].
In other words, the four breasts are equally susceptible to cancer development. This offers opportunities 42 years old pregnant with twins preventive medical tamoxifen or surgical therapy. Similar considerations apply to several other cancers. Many workers in the field of twin medical services and research feel that all twin pairs have the right to know their zygosity.
In view of the above discussion, it is clear that determination of zygosity is not as simple as was once thought. Nor is zygosity testing widely available. A number of laboratories offer testing based on buccal cell samples, using 8 or so variable number tandem repeats VNTRs.
But MZ twins can be quite dissimilar via a number of mechanisms: genetic, epigenetic and prenatal environmental; chimeric MC DZ twins must also be considered. When using any method for zygosity testing, DZ twinning is usually diagnosed when a genotypic difference is detected, but MZ twinning can only be diagnosed statistically by failing to detect genotypic difference after testing to a reasonable degree of exhaustiveness, compatible with reasonable time and cost.
MC status is more like a screening tool, which should be implemented in practice, rather than a safely diagnostic modality of MZ twinning. Chorionicity determination, like any screen, clearly has false positives and negatives. Using placentation, for present purposes, seems reasonable to continue to designate spontaneously conceived MC twins as MZ; but DZ MC chimerism should be considered if the twins clearly have or develop a DZ phenotype, especially when reproduction has been artificial.
In genotyping, the most common method is to extract markers from buccal samples by PCR, and analyze eight variable microsatellite loci. Any discordant results are thought to indicate DZ twins. At present, it is not known how many VNTR single locus discordances are tolerable within MZ twinning, and much more needs to be discovered before genotypic criteria 42 years old pregnant with twins zygosity diagnosis can be standardized.
In doubtful cases, 42 years old pregnant with twins can be repeated using low stringency methods, although these are not available from small DNA samples.
For prenatal diagnosis, double amniocentesis is preferable to chorionic villus sampling. Again, cordocentesis samples can be misleading in MC twins. In testing MZ twins discordant for suspected genetic and developmental disorders, blood mosaicism can compromise results unless it is certain that the twins were DC.
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Article Free Access. Geoffrey Machin Corresponding Author E-mail address: geoffmachin shaw. Search for more papers by this author. Tools Request permission Export citation Add to favorites Track citation.
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Unequal Blastomere Allocation There is evidence that the original allocation of stem cells to each twin may not always be scrupulously fair and equitable larger clone sizes from fewer precursor cells in one twin [Nance, ]. Figure 2 Open in figure viewer PowerPoint. Zygotic chromosomes Twin chromosomes Phenotype Refs.
Autosomal trisomy Concordant autosomal trisomy, e. Disorder Refs. Disorder Affected epigenotype Refs. Figure 3 Open in figure viewer PowerPoint. Major and Regional Malformations 1 Congenital heart defects.
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