Prenatal Testing For Fetal Structural And Genetic Abnormalities: Fill & Download for Free

First things first, abortion is the only alternative to pregnancy. Abortion is usually a matter of individual, rather than State, choice (except in countries with population control edicts).For many women, being pregnant/pregnancy is the problem. Whether it is a matter of health (too young, too old, other medical conditions), a matter of safety (so many women end up in physical danger when pregnancies are revealed), a matter of security (many pregnant girls and women are in precarious situations with regards to work, housing, food, clothing, etc), or a matter of education/careers (women who interrupt education/careers to have children are very likely to struggle with poverty for several years) — being pregnant and carrying a baby to term is a catastrophic prospect.The vast majority of abortions are performed in the first trimester and are done to terminate an unplanned pregnancy.Some abortions are performed after ultrasounds or prenatal testing reveal fetal abnormalities. These are invariably wanted pregnancies in which something has gone wrong, and parents are told what the issues are and what the quality of life prospects for the child are. The decision to terminate or proceed with such pregnancies are highly individual. It isn't about “eugenics” ( a horror of contributing defective genes to the human gene pool) — but usually a concern about three things: the suffering the child will endure and their capacity to meet needs of the child within their socio-economic structure, as well as concerns about whether or not it will negatively impact their abilities to care for their other children, who will care for child later in life, etc.There are people who have heritable diseases or are from families with heritable diseases who do not want to perpetuate their suffering and would abort any pregnancy in which screening revealed the possibility of that disease. I respect that choice. Who better than someone who suffers with PKD or OI, has lost siblings and children to the diseases, to decide whether or not they want to put one more child through it? Is it eugenics? On a microscale, perhaps one could argue that, but the choice isn't about what's best for the human gene pool — it's about what parents think would be best for their child.Eugenics, on the other hand, is a top-down phenomenon in which societal or government pressure is brought to bear to reduce the occurance of “negative” genetic traits or to select for “positive” ones. Often, the concerns or preferences of the individuals are ignored. Think forced sterilization, forced abortion, government-mediated reproduction, and designer embryos.You are drawing a false equivalency.

It is unlikely that any medication will approximate a “cure” for ASD because the problems are not simply neuro-chemical imbalances as in depression, anxiety, etc. ASD disorders stem from structural and functional differences in the brain. As early as fetal development, ASD can be detected in the abnormalities in the migration and growth of neurons in specific brain areas. Also, genetic studies have identified certain genes and proteins associated with these abnormalities. So any “cure” would have to begin with genetic testing prenatally, and perhaps the potential manipulation of certain genes to turn on or turn off as needed. We are only at the very beginning of this kind of technology.New medications may be developed that better adjust the chemistry of brain circuitry and neural communication. These would alleviate some ASD symptoms and help improve quality of functioning, but that would not be a “"cure.”

Contrary to popular belief, the sex you develop as isn’t actually determined by X and Y chromosomes, but by hormones.Ways of visualising chromosomes under a microscope, and the science of genetics, progressed to a mature stage when the study of hormones was still in its infancy. One thing geneticists noticed was that people who are female always seem to have XX chromosomes, while people who are male always appear to be XY. That gave rise to the popular misconception that sex is determined by X and Y chromosomes, and that XX = female, while XY = male. In fact, all being XX or XY does is (about 6 weeks post-conception) determine whether you develop ovaries or testicles, everything from that point onwards is driven by hormones.In most people, testicular or ovarian development takes place as it should, those organs produce their hormones as they should throughout your prenatal development, and their body responds normally to those hormones. That has given rise to the illusion that XX = female and XY = male. However, it’s just an illusion. If the early geneticists had studied enough people, they’d have discovered that there are people who are XX but have developed as male (e.g. De La Chappelle syndrome), and people who are XY but have developed as female (e.g. Swyer’s syndrome, Complete Androgen Insensitivity Syndrome).All those conditions are quite rare (less than 1 in 10,000 births), which is why geneticists didn’t realise that there were exceptions to their rule until long after the idea that XX = female and XY = male had become deeply rooted in public consciousness. Nonetheless, there are exceptions to that rule, and when you look at why those exceptions occur, it makes it clear that the actual thing that determines whether you develop as male or female is whether there are high or low levels of androgenic testicular hormones (primarily testosterone and DHT) present during the time your prenatal development is taking place. In the presence of high levels of these hormones, you develop as male, otherwise you develop as female. Female development can also occur even with high levels of adrogenic hormones present if the androgen response is reduced or absent (as in Androgen Insensitivity Syndrome).The critical period when hormones direct whether you develop as male or female starts about 7 weeks after conception, and ends shortly after birth. The first part of this critical period (weeks 7 to 12) mainly involves genital development. Following that (my guess is around week 16–17, when there’s a big spike in fetal testosterone production), the hormone controlling regions of the brain (the hypothalamus and pituitary) receive their programming as to whether to act like they’re in a male or female body. For the remainder of the pregnancy the permanent structure of the brain is being built, either along male or female lines depending on whether there are high or low levels of androgens present.Later in life, hormones have “activational” effects, in which they bring to life all the stuff that was laid down during the organizational phase, and cause a child to mature into an adult man or woman. The “activational” effects of hormones during puberty and adult life are (mostly) temporary, and gradually fade away if that person stops producing sex hormones. By contrast, whatever happened during the prenatal “organizational” period is permanent, and stays with that person for the remainder of their life.In most people, the testicles or ovaries form as they should, and produce their hormones as they should throughout prenatal development, and later during puberty and adult life. That’s why most of the population falls into a well defined “male” or “female” category. However, things can go wrong with a person’s hormone production, and if that happens during the critical prenatal period, then you’re likely to end up with someone who is, to a greater or lesser extent, gender blended, with parts of their prenatal development having occurred as intersex, or the complete opposite sex to their genetic one.Exactly what ends up affected depends on how far into prenatal development the period of hormone disruption occurred (and for how long it lasts). If it’s during the week 7 to week 12 window when genital development is taking place, that person will be born with physical intersex-related abnormalities of the genitals (e.g. hypospadias, chordee, undescended testes, or in genetic females an enlarged clitoris or labioscrotal fusion). If it occurs during the critical window for programming of the hypothalamus and pituitary, they’ll end up with endocrine disorders later in life (hyperandrogenism/polycystic ovarian syndrome in genetic females, idiopathic secondary hypogonadism in males). If it occurs later still, the main effects will be on things driven by sex differences in the brain, including gender identity as well as whether they have masculine or feminine psychological and behavioural preferences.So intersex and transgender are really just two sides of the same coin, intersex being associated with hormone disruption during the first trimester, transgender with hormone disruption later in the pregnancy.Intersex usually gets talked about in terms of genetic anomalies, even though (as with regular male or female development), it’s actually the result of hormones. If you look at the genetic causes of intersex, they all exert their effects through atypical hormone production or hormone responses. For instance, an XXY karyotype (Klinefelter’s syndrome) prevents the testicles from growing to full size and producing the full male quota of testosterone. The result is usually a feminine appearing male who is often psychologically gender blended too. Congenital Adrenal Hyperplasia is a condition that leads to atypically high androgen production in genetic females, which can result in a person with ambiguous genitalia and masculinized behaviour. All the other genetic causes of intersex similarly exert their effects by interfering with hormone production or hormone responses during the prenatal period.It’s important to note that exposure to external hormones or hormone mimicking chemicals can also interfere with the process of sexual development in an unborn child, without any genetic anomalies being present whatsoever. Something I’ve been campaigning about for some time, is that the medical use in pregnant women of synthetic hormones (manmade substances used as medicines, that mimic the effects of the hormones that occur naturally in the human body), is likely to be an unacknowledged cause of both intersex and transgender. Many of these substances either cross-react with androgen receptors (giving them testosterone-mimicking properties), or interfere with testosterone production in males. There are at least 3 substances that were widely used as medicines during the second half of the 20th century, that appear to have caused people to be born with abnormalities of sexual development. They are:Diethylstilbestrol (or DES), a powerful artificial estrogen with testosterone suppressing properties. DES appears to have mainly caused female development in the male babies who were exposed to it, although I’ve alswo found a case report where it induced male development in female babies.Ethisterone and norethisterone, two synthetic hormones designed to mimic the female hormone progesterone, but which turned out to cross react strongly with androgen receptors in female fetuses. I’ve found several case reports documenting male development in female babies as a result of exposure to these two drugs. The case reports focus purely on genital appearance, however having now chatted online with several people who were prenatally exposed to them, they appear to have driven male brain development too (as you’d expect).All 3 of these hormones had been discontinued from use in pregnancy by about 1980, however other synthetic hormones capable of interfering with testosterone production in adult men remain in use during pregnancy, and I think it’s highly likely that kids are continuing to be born trans as a result of exposure to these drugs. Most high dose uses of hormones in pregnant women tend to happen after the critical period for genital development has already finished and during the critical period when sex differences in the brain are thought to arise, making them more likely to be a cause of transgender rather than intersex.